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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.

rs1194861613

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1929379-1929380 (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
ins(AGGG)3AGAGGA
Variation Type
Insertion
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CFAP74 : Intron 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 1 NC_000001.11:g.1929379_1929380insAGGGAGGGAGGGAGAGGA
GRCh37.p13 chr 1 NC_000001.10:g.1860818_1860819insAGGGAGGGAGGGAGAGGA
Gene: CFAP74, cilia and flagella associated protein 74 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CFAP74 transcript NM_001304360.2:c.3289-498…

NM_001304360.2:c.3289-498_3289-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X3 XM_011542333.2:c.3358-498…

XM_011542333.2:c.3358-498_3358-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X5 XM_011542335.1:c.2782-498…

XM_011542335.1:c.2782-498_2782-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X6 XM_011542336.3:c.2782-498…

XM_011542336.3:c.2782-498_2782-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X1 XM_017002641.1:c.3415-498…

XM_017002641.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X2 XM_017002642.1:c.3415-498…

XM_017002642.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X4 XM_017002643.1:c.3415-498…

XM_017002643.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT

N/A Intron Variant
CFAP74 transcript variant X7 XM_017002644.2:c.847-498_…

XM_017002644.2:c.847-498_847-497insTCCTCTCCCTCCCTCCCT

N/A Intron 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
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").

None
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 = ins(AGGG)3AGAGGA
GRCh38.p13 chr 1 NC_000001.11:g.1929379_1929380= NC_000001.11:g.1929379_1929380insAGGGAGGGAGGGAGAGGA
GRCh37.p13 chr 1 NC_000001.10:g.1860818_1860819= NC_000001.10:g.1860818_1860819insAGGGAGGGAGGGAGAGGA
CFAP74 transcript NM_001304360.2:c.3289-498= NM_001304360.2:c.3289-498_3289-497insTCCTCTCCCTCCCTCCCT
KIAA1751 transcript variant X1 XM_005244811.1:c.3289-498= XM_005244811.1:c.3289-498_3289-497insTCCTCTCCCTCCCTCCCT
KIAA1751 transcript variant X2 XM_005244812.1:c.3289-498= XM_005244812.1:c.3289-498_3289-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X3 XM_011542333.2:c.3358-498= XM_011542333.2:c.3358-498_3358-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X5 XM_011542335.1:c.2782-498= XM_011542335.1:c.2782-498_2782-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X6 XM_011542336.3:c.2782-498= XM_011542336.3:c.2782-498_2782-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X1 XM_017002641.1:c.3415-498= XM_017002641.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X2 XM_017002642.1:c.3415-498= XM_017002642.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X4 XM_017002643.1:c.3415-498= XM_017002643.1:c.3415-498_3415-497insTCCTCTCCCTCCCTCCCT
CFAP74 transcript variant X7 XM_017002644.2:c.847-498= XM_017002644.2:c.847-498_847-497insTCCTCTCCCTCCCTCCCT
Help

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#.

2 SubSNP submissions
No Submitter Submission ID Date (Build)
1 SYSTEMSBIOZJU ss2137334782 Nov 08, 2017 (151)
2 INMEGENXS ss3745565713 Jul 12, 2019 (153)
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
ss2137334782, ss3745565713 NC_000001.10:1860818::AGGGAGGGAGGG…

NC_000001.10:1860818::AGGGAGGGAGGGAGAGGA

NC_000001.11:1929379::AGGGAGGGAGGG…

NC_000001.11:1929379::AGGGAGGGAGGGAGAGGA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1194861613

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