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Reference SNP (refSNP) Cluster Report: rs63751126                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/149
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:A:germline
C:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.000008/1 (ExAC)
HGVS Names
  • NC_000003.11:g.87302948A>C
  • NC_000003.11:g.87302948A>T
  • NC_000003.12:g.87253798A>C
  • NC_000003.12:g.87253798A>T
  • NG_007885.1:g.31536A>C
  • NG_007885.1:g.31536A>T
  • NM_001244644.1:c.495A>C
  • NM_001244644.1:c.495A>T
  • NM_014043.3:c.618A>C
  • NM_014043.3:c.618A>T
  • NP_001231573.1:p.Gln165His
  • NP_054762.2:p.Gln206His
  • XM_011533576.2:c.666A>C
  • XM_011533576.2:c.666A>T
  • XP_011531878.1:p.Gln222His
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 ss244238195 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs63751126 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
ss95216233VIB_MOLGEN_ADFTDMDB|ADM_385fwd/TA/Ctacaatctcagatgaagagattgaacggcactcaaggctttaggagtagattagtcaaaa03/21/0802/13/13137Genomicunknown
ss179362426GENEREVIEWS|NM_014043.3:c.618A>Cfwd/TA/Ctacaatctcagatgaagagattgaacggcactcaaggctttaggagtagattagtcaaaa11/18/0910/18/12137Genomicunknown
ss244238195OMICIA|2010_April_001_071_CHMP2B_609512_0003fwd/TA/Ctacaatctcagatgaagagattgaacggcactcaaggctttaggagtagattagtcaaaa05/27/1005/28/10132Genomicunknown
ss252841502OMIM-CURATED-RECORDS|16372fwd/TA/Ctacaatctcagatgaagagattgaacggcactcaaggctttaggagtagattagtcaaaa08/10/1008/10/10132Genomicunknown
ss1687103809EVA_EXAC|EVA_EXAC_2031192fwd/A/Ttctcagatgaagagattgaacggcactcaaggctttaggagtagattagt03/04/1503/04/15144Genomicunknown
ss1687103810EVA_EXAC|EVA_EXAC_2031193fwd/A/Ctctcagatgaagagattgaacggcactcaaggctttaggagtagattagt03/04/1503/04/15144Genomicunknown
ss1946088847ILLUMINA|HumanCoreExome-12v1-0_C_newrs63751126-1_T_F_2113393800fwd/TA/Ctctcagatgaagagattgaacggcactcaaggctttaggagtagattagt10/29/1510/29/15147Genomicunknown
ss1958584478ILLUMINA|newrs63751126-1_T_F_2113393800fwd/TA/Ctctcagatgaagagattgaacggcactcaaggctttaggagtagattagt11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs63751126|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=147
 TGCCTACCAC GTTTGTCACT TAATTGTTTT GTTTTTACTA GGAGGTGCAT GGTTTTTATT
 TCTGTTTCAA AAGTAAATTA AACAGACCTC TTTACAGCAC ATCCTGTATG TCCTAGTCCA
 AATGTTTCCT AATGCACGTT TGTCTTTTTC ATTGTTTAAT ATAGATGGCC AAAGCTCCAT
 CAGCTGCTCG AAGCTTACCA TCTGCCTCTA CTTCAAAGGC TACAATCTCA GATGAAGAGA
 TTGAACGGCA
 H
 CTCAAGGCTT TAGGAGTAGA TTAGTCAAAA GAAGTCATAC TATTTTGCTT ACTTATAATT
 ATGTAGTATA AACCAAGCAC AGTGCAGATT TCTTTTACAA AACACATGTA TTTTGCAAAA
 AAAAAAAAAA TGAAGACCAT GAGTGAACAG TTGTTTCCTA ACCCATGGCT ATTTAGAATC
 TTTTGCCAAA GAATGACAAT GATGCAAAAA TGGGAACAGT TTGGATTTTA ATTAGAACTG
 TTTAGGAGTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_054762  
OMIM
609512.0003

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
T
ss1687103809ExAc_Aggregated_Populations121407AF 0.99999177 0.00000824
ss1687103810ExAc_Aggregated_Populations121407AF 0.999991770.00000824

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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