NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs55738309                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0021/259 (ExAC)
A=0.0006/3 (1000 Genomes)
A=0.0027/35 (GO-ESP)
A=0.0018/232 (TOPMED)
HGVS Names
  • CM000663.2:g.17823118C>A
  • CM000663.2:g.17823118C>T
  • NC_000001.10:g.18149613C>A
  • NC_000001.11:g.17823118C>A
  • NC_000001.11:g.17823118C>T
  • NM_030812.2:c.110C>A
  • NM_030812.2:c.110C>T
  • NP_110439.2:p.Pro37Gln
  • NP_110439.2:p.Pro37Leu
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss76884806 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs55738309 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss76884806SI_EXO|NT_004610.18_973955fwd/TA/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc09/20/0709/20/07129Genomicunknown
ss2173144571000GENOMES|pilot_3_CEU_28_chr1_18022200fwd/TA/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc04/09/1004/09/10132Genomicunknown
ss341939369NHLBI-ESP|ESP2500-chr1-18149613byFreqfwd/TA/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc03/25/1109/05/14134Genomicunknown
ss4539066421000GENOMES|20101123_snps_73872_chr1_18149613fwd/A/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc07/20/1107/20/11135Genomicunknown
ss4897248871000GENOMES|20110521_exome_296496_chr1_18149613fwd/TA/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc02/10/1202/21/12137Genomicunknown
ss491287945EXOME_CHIP|nonsyn_4172_chr_1_18149613fwd/TA/Ctggtcttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagctatgc03/05/1203/05/12137Genomicunknown
ss491587203CLINSEQ_SNP|SNV-chr1-18022200byFreqfwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/06/1209/05/14137Genomicunknown
ss780806813ILLUMINA|HumanOmni25Exome-8v1_A_exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/30/1307/09/15146Genomicunknown
ss783488496ILLUMINA|HumanOmniExpressExome-8v1_A_exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/31/1306/18/15146Genomicunknown
ss974903810EVA-GONL|EVA-GONL_rs55738309fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc04/23/1404/23/14142Genomicunknown
ss12898726011000GENOMES|PHASE3_V1_558456fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc08/16/1408/16/14142Genomicunknown
ss1584261092EVA_DECODE|EVA_DECODE_1_18022200_131826_rs55738309fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/02/1503/02/15144Genomicunknown
ss1599639507EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_18149613_287515fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/04/1503/04/15144Genomicunknown
ss1642633540EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_18149613_287515fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/04/1503/04/15144Genomicunknown
ss1685351819EVA_EXAC|EVA_EXAC_144547fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/04/1503/04/15144Genomicunknown
ss1710892626EVA_MGP|EVA_XIMO_9378fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/09/1503/09/15144Genomicunknown
ss1751884960ILLUMINA|OmniExpressExome-8v1-1_B_exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/27/1506/09/15146Genomicunknown
ss1917723766ILLUMINA|HumanExome-12v1-1_B_exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc10/16/1510/16/15147Genomicunknown
ss1945986452ILLUMINA|HumanCoreExome-12v1-0_C_exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc10/29/1510/29/15147Genomicunknown
ss1958247858ILLUMINA|exm24147-0_T_F_1921480713fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc11/13/1511/13/15147Genomicunknown
ss2019568325JJLAB|SNP70880fwd/TA/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc08/29/1608/30/16149Genomicunknown
ss2160392592HUMAN_LONGEVITY|HLI-1-17823118-C-Afwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc11/18/1611/18/16150Genomicunknown
ss2710666825ILLUMINA|Consortium-OncoArray_15047405_A_exm24147-0_T_F_1921480713fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc03/22/1703/22/17151Genomicunknown
ss2731193580GNOMAD|exomes_rs55738309fwd/A/C/Tttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/17/1705/17/17151Genomicunknown
ss2746240325GNOMAD|coding_rs55738309fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/17/1705/17/17151Genomicunknown
ss2752209887GNOMAD|rs55738309fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/17/1705/17/17151Genomicunknown
ss2984847570AFFY|Axiom_PsorMich_Affx-6068378fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/24/1705/24/17151Genomicunknown
ss2986399139SWEGEN|NC_000001.10:g.18149613C>Afwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc05/30/1705/30/17151Genomicunknown
ss3021061144ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm24147-0_T_F_1921480713fwd/A/Cttcccgaacatcgtgaactacctacgtgcaaggagaaccctggccccagc06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs55738309|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 GTGCAAAGTG CAGTGGGAGA AGCTGAGTGG GCAGGAGGGG TGGGGGCCAC TTCCTGGATG
 TGGCCCATTA AGGGAGCCTG GTAGGATGGT TGGGAATTTG GGATGGGGGG AGTGTTCCAG
 GCACAGGTAA TGGCTTGTGT AAAGGCTTGG AAGGGGCAGT GGACAAGCTT CAGGGGGAGC
 CTGAGGTTTG ACTGTTGGGT AGAGGGGGAA GCTGCTTATG GTGGCCTAGG CTGCCTGCAC
 AACTAACCCC ATCCTTTGCT TCCGCAGGTC CCACCCACCT CTGCCTCCGC CATGGCTGCA
 AGAACCGTTA TCATTGACCA CGGGTCTGGC TTTTTGAAGG CTGGCACGGC CGGCTGGAAT
 GAGCCTCAGA TGGTCTTCCC GAACATCGTG AACTACCTAC
 H
 GTGCAAGGAG AACCCTGGCC CCAGCTATGC CCGTAGGCGT GTGAGCCTGG GCATCGACAT
 TTGCCATCCT GACACCTTTA GCTACCCCAT CGAGCGGGGC CGCATCCTCA ACTGGGAGGG
 TGTGCAGTAC CTCTGGTCAT TTGTGTTGGA GAACCACAGA CGGGAGCAAG AGGTCCCCCC
 TGTGATCATC ACGGAGACAC CCTTGAGGGA GCCTGCGGAC CGAAAGAAGA TGCTGGAGGT
 GAGGCCTGCC GGGGCCTGCT CCCACTCGGG AGCGGGAAAC AGACTGACAC TATGTCTGGA
 CTGATTGGGC ACCAGGAATT CTGCTTTTTA AGATAAATTG CCAACCAGGT GTGGTGGCTT
 ATGCCTGTAA TCCCAACACT TTGGGACTCC CAGGCAGGCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004610.18
dbSNP Blast Analysis
3D structure mapping
NP_110439  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss1289872601EAS 1008AF 1.00000000
EUR 1006AF 0.003000000.99699998
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685351819ExAc_Aggregated_Populations121412AF 0.002133230.99786675
ss217314457pilot_3_CEU_exon_capture_panel 178AF 0.005617980.99438202
ss341939369ESP_Cohort_Populations 4552GF 0.004393670.995606301.000000000.002196840.99780315
ss491587203CSAgilent 1323GF 0.014000000.986000001.000000000.007000000.99299997

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.004+/-0.0460000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN