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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs781153757

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:15009724 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/140332, GnomAD)
A=0.00017 (2/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDXDC1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 16 NC_000016.10:g.15009724G>A
GRCh38.p13 chr 16 NC_000016.10:g.15009724G>C
GRCh37.p13 chr 16 NC_000016.9:g.15103581G>A
GRCh37.p13 chr 16 NC_000016.9:g.15103581G>C
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.849074G>A
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.849074G>C
Gene: PDXDC1, pyridoxal dependent decarboxylase domain containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDXDC1 transcript variant 5 NM_001285448.1:c.419G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Arg140Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 5 NM_001285448.1:c.419G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Arg140Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 4 NM_001285447.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 4 NM_001285447.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 1 NM_015027.4:c.692G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Arg231Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 1 NM_015027.4:c.692G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Arg231Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 7 NM_001285450.2:c.623G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 7 NP_001272379.1:p.Arg208Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 7 NM_001285450.2:c.623G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 7 NP_001272379.1:p.Arg208Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 3 NM_001285445.2:c.608G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Arg203Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 3 NM_001285445.2:c.608G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Arg203Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 2 NM_001285444.2:c.611G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Arg204Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 2 NM_001285444.2:c.611G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Arg204Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 8 NM_001324019.2:c.689G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Arg230Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 8 NM_001324019.2:c.689G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Arg230Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 9 NM_001324020.2:c.689G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 9 NP_001310949.1:p.Arg230Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 9 NM_001324020.2:c.689G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 9 NP_001310949.1:p.Arg230Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 10 NM_001324021.2:c.611G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 10 NP_001310950.1:p.Arg204Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 10 NM_001324021.2:c.611G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 10 NP_001310950.1:p.Arg204Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant 6 NM_001285449.2:c.692G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 6 NP_001272378.1:p.Arg231Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant 6 NM_001285449.2:c.692G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 6 NP_001272378.1:p.Arg231Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X4 XM_006720865.2:c.566G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Arg189Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X4 XM_006720865.2:c.566G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Arg189Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X1 XM_017023059.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X1 XM_017023059.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X3 XM_017023060.1:c.719G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Arg240Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X3 XM_017023060.1:c.719G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Arg240Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X7 XM_017023062.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X7 XM_017023062.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X8 XM_017023063.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X8 XM_017023063.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X9 XM_017023064.1:c.566G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Arg189Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X9 XM_017023064.1:c.566G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Arg189Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X10 XM_017023065.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X6 XP_016878554.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X10 XM_017023065.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X6 XP_016878554.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X5 XM_005255176.3:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X5 XM_005255176.3:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X6 XM_017023061.2:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X6 XM_017023061.2:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X11 XM_024450194.1:c.647G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X7 XP_024305962.1:p.Arg216Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X11 XM_024450194.1:c.647G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X7 XP_024305962.1:p.Arg216Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X12 XM_024450195.1:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X8 XP_024305963.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X12 XM_024450195.1:c.746G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X8 XP_024305963.1:p.Arg249Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X13 XM_024450196.1:c.719G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X9 XP_024305964.1:p.Arg240Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X13 XM_024450196.1:c.719G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X9 XP_024305964.1:p.Arg240Pro R (Arg) > P (Pro) Missense Variant
PDXDC1 transcript variant X14 XM_024450197.1:c.566G>A R [CGA] > Q [CAA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X10 XP_024305965.1:p.Arg189Gln R (Arg) > Q (Gln) Missense Variant
PDXDC1 transcript variant X14 XM_024450197.1:c.566G>C R [CGA] > P [CCA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X10 XP_024305965.1:p.Arg189Pro R (Arg) > P (Pro) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 11862 G=0.99983 A=0.00017
European Sub 7618 G=1.0000 A=0.0000
African Sub 2816 G=0.9993 A=0.0007
African Others Sub 108 G=1.000 A=0.000
African American Sub 2708 G=0.9993 A=0.0007
Asian Sub 108 G=1.000 A=0.000
East Asian Sub 84 G=1.00 A=0.00
Other Asian Sub 24 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 94 G=1.00 A=0.00
Other Sub 470 G=1.000 A=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 140332 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75974 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 42078 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13668 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C
GRCh38.p13 chr 16 NC_000016.10:g.15009724= NC_000016.10:g.15009724G>A NC_000016.10:g.15009724G>C
GRCh37.p13 chr 16 NC_000016.9:g.15103581= NC_000016.9:g.15103581G>A NC_000016.9:g.15103581G>C
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.849074= NT_187607.1:g.849074G>A NT_187607.1:g.849074G>C
PDXDC1 transcript variant 1 NM_015027.4:c.692= NM_015027.4:c.692G>A NM_015027.4:c.692G>C
PDXDC1 transcript variant 1 NM_015027.3:c.692= NM_015027.3:c.692G>A NM_015027.3:c.692G>C
PDXDC1 transcript NM_015027.2:c.692= NM_015027.2:c.692G>A NM_015027.2:c.692G>C
PDXDC1 transcript variant X5 XM_005255176.3:c.647= XM_005255176.3:c.647G>A XM_005255176.3:c.647G>C
PDXDC1 transcript variant X4 XM_005255176.1:c.647= XM_005255176.1:c.647G>A XM_005255176.1:c.647G>C
PDXDC1 transcript variant 8 NM_001324019.2:c.689= NM_001324019.2:c.689G>A NM_001324019.2:c.689G>C
PDXDC1 transcript variant 8 NM_001324019.1:c.689= NM_001324019.1:c.689G>A NM_001324019.1:c.689G>C
PDXDC1 transcript variant 2 NM_001285444.2:c.611= NM_001285444.2:c.611G>A NM_001285444.2:c.611G>C
PDXDC1 transcript variant 2 NM_001285444.1:c.611= NM_001285444.1:c.611G>A NM_001285444.1:c.611G>C
PDXDC1 transcript variant 3 NM_001285445.2:c.608= NM_001285445.2:c.608G>A NM_001285445.2:c.608G>C
PDXDC1 transcript variant 3 NM_001285445.1:c.608= NM_001285445.1:c.608G>A NM_001285445.1:c.608G>C
PDXDC1 transcript variant X6 XM_017023061.2:c.647= XM_017023061.2:c.647G>A XM_017023061.2:c.647G>C
PDXDC1 transcript variant X4 XM_006720865.2:c.566= XM_006720865.2:c.566G>A XM_006720865.2:c.566G>C
PDXDC1 transcript variant 7 NM_001285450.2:c.623= NM_001285450.2:c.623G>A NM_001285450.2:c.623G>C
PDXDC1 transcript variant 7 NM_001285450.1:c.623= NM_001285450.1:c.623G>A NM_001285450.1:c.623G>C
PDXDC1 transcript variant 6 NM_001285449.2:c.692= NM_001285449.2:c.692G>A NM_001285449.2:c.692G>C
PDXDC1 transcript variant 6 NM_001285449.1:c.692= NM_001285449.1:c.692G>A NM_001285449.1:c.692G>C
PDXDC1 transcript variant 9 NM_001324020.2:c.689= NM_001324020.2:c.689G>A NM_001324020.2:c.689G>C
PDXDC1 transcript variant 9 NM_001324020.1:c.689= NM_001324020.1:c.689G>A NM_001324020.1:c.689G>C
PDXDC1 transcript variant 10 NM_001324021.2:c.611= NM_001324021.2:c.611G>A NM_001324021.2:c.611G>C
PDXDC1 transcript variant 10 NM_001324021.1:c.611= NM_001324021.1:c.611G>A NM_001324021.1:c.611G>C
PDXDC1 transcript variant X10 XM_017023065.1:c.647= XM_017023065.1:c.647G>A XM_017023065.1:c.647G>C
PDXDC1 transcript variant 5 NM_001285448.1:c.419= NM_001285448.1:c.419G>A NM_001285448.1:c.419G>C
PDXDC1 transcript variant 4 NM_001285447.1:c.647= NM_001285447.1:c.647G>A NM_001285447.1:c.647G>C
PDXDC1 transcript variant X9 XM_017023064.1:c.566= XM_017023064.1:c.566G>A XM_017023064.1:c.566G>C
PDXDC1 transcript variant X13 XM_024450196.1:c.719= XM_024450196.1:c.719G>A XM_024450196.1:c.719G>C
PDXDC1 transcript variant X12 XM_024450195.1:c.746= XM_024450195.1:c.746G>A XM_024450195.1:c.746G>C
PDXDC1 transcript variant X14 XM_024450197.1:c.566= XM_024450197.1:c.566G>A XM_024450197.1:c.566G>C
PDXDC1 transcript variant X11 XM_024450194.1:c.647= XM_024450194.1:c.647G>A XM_024450194.1:c.647G>C
PDXDC1 transcript variant X3 XM_017023060.1:c.719= XM_017023060.1:c.719G>A XM_017023060.1:c.719G>C
PDXDC1 transcript variant X8 XM_017023063.1:c.647= XM_017023063.1:c.647G>A XM_017023063.1:c.647G>C
PDXDC1 transcript variant X7 XM_017023062.1:c.647= XM_017023062.1:c.647G>A XM_017023062.1:c.647G>C
PDXDC1 transcript variant X1 XM_017023059.1:c.647= XM_017023059.1:c.647G>A XM_017023059.1:c.647G>C
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Arg231= NP_055842.2:p.Arg231Gln NP_055842.2:p.Arg231Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Arg216= XP_005255233.1:p.Arg216Gln XP_005255233.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Arg230= NP_001310948.1:p.Arg230Gln NP_001310948.1:p.Arg230Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Arg204= NP_001272373.1:p.Arg204Gln NP_001272373.1:p.Arg204Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Arg203= NP_001272374.1:p.Arg203Gln NP_001272374.1:p.Arg203Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Arg216= XP_016878550.1:p.Arg216Gln XP_016878550.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Arg189= XP_006720928.2:p.Arg189Gln XP_006720928.2:p.Arg189Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 7 NP_001272379.1:p.Arg208= NP_001272379.1:p.Arg208Gln NP_001272379.1:p.Arg208Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 6 NP_001272378.1:p.Arg231= NP_001272378.1:p.Arg231Gln NP_001272378.1:p.Arg231Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 9 NP_001310949.1:p.Arg230= NP_001310949.1:p.Arg230Gln NP_001310949.1:p.Arg230Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 10 NP_001310950.1:p.Arg204= NP_001310950.1:p.Arg204Gln NP_001310950.1:p.Arg204Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X6 XP_016878554.1:p.Arg216= XP_016878554.1:p.Arg216Gln XP_016878554.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Arg140= NP_001272377.1:p.Arg140Gln NP_001272377.1:p.Arg140Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Arg216= NP_001272376.1:p.Arg216Gln NP_001272376.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Arg189= XP_016878553.1:p.Arg189Gln XP_016878553.1:p.Arg189Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X9 XP_024305964.1:p.Arg240= XP_024305964.1:p.Arg240Gln XP_024305964.1:p.Arg240Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X8 XP_024305963.1:p.Arg249= XP_024305963.1:p.Arg249Gln XP_024305963.1:p.Arg249Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X10 XP_024305965.1:p.Arg189= XP_024305965.1:p.Arg189Gln XP_024305965.1:p.Arg189Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X7 XP_024305962.1:p.Arg216= XP_024305962.1:p.Arg216Gln XP_024305962.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Arg240= XP_016878549.1:p.Arg240Gln XP_016878549.1:p.Arg240Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Arg216= XP_016878552.1:p.Arg216Gln XP_016878552.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Arg216= XP_016878551.1:p.Arg216Gln XP_016878551.1:p.Arg216Pro
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Arg216= XP_016878548.1:p.Arg216Gln XP_016878548.1:p.Arg216Pro
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

6 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1692168038 Apr 01, 2015 (144)
2 EVA_EXAC ss1692168039 Apr 01, 2015 (144)
3 GNOMAD ss2741771673 Nov 08, 2017 (151)
4 GNOMAD ss2749475721 Nov 08, 2017 (151)
5 GNOMAD ss2940821790 Nov 08, 2017 (151)
6 TOPMED ss3241243025 Nov 08, 2017 (151)
7 ExAC

Submission ignored due to conflicting rows:
Row 2565634 (NC_000016.9:15103580:G:G 121135/121140, NC_000016.9:15103580:G:A 5/121140)
Row 2565635 (NC_000016.9:15103580:G:G 121139/121140, NC_000016.9:15103580:G:C 1/121140)

- Oct 12, 2018 (152)
8 ExAC

Submission ignored due to conflicting rows:
Row 2565634 (NC_000016.9:15103580:G:G 121135/121140, NC_000016.9:15103580:G:A 5/121140)
Row 2565635 (NC_000016.9:15103580:G:G 121139/121140, NC_000016.9:15103580:G:C 1/121140)

- Oct 12, 2018 (152)
9 gnomAD - Genomes NC_000016.10 - 15009724 Apr 27, 2021 (155)
10 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11049024 (NC_000016.9:15103580:G:G 250283/250290, NC_000016.9:15103580:G:A 7/250290)
Row 11049025 (NC_000016.9:15103580:G:G 250289/250290, NC_000016.9:15103580:G:C 1/250290)

- Jul 13, 2019 (153)
11 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11049024 (NC_000016.9:15103580:G:G 250283/250290, NC_000016.9:15103580:G:A 7/250290)
Row 11049025 (NC_000016.9:15103580:G:G 250289/250290, NC_000016.9:15103580:G:C 1/250290)

- Jul 13, 2019 (153)
12 ALFA NC_000016.10 - 15009724 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1692168039, ss2741771673, ss2749475721, ss2940821790 NC_000016.9:15103580:G:A NC_000016.10:15009723:G:A (self)
484132868, 13872438640, ss3241243025 NC_000016.10:15009723:G:A NC_000016.10:15009723:G:A (self)
ss1692168038, ss2741771673 NC_000016.9:15103580:G:C NC_000016.10:15009723:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs781153757

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad