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Reference SNP (refSNP) Cluster Report: rs12405900                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterwithHapMapFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.2186/27453 (TOPMED)
HGVS Names
  • CM000663.2:g.16571G>A
  • CM000663.2:g.16571G>T
  • NC_000001.10:g.16571G>A
  • NC_000001.11:g.16571G>A
  • NC_000001.11:g.16571G>T
  • NR_024540.1:n.1080+36C>A
  • NR_024540.1:n.1080+36C>T
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 ss275679868 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12405900 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
ss19122727CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_077402.1_6434fwd/TA/Gacagaaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagagctgct02/20/0403/04/04120Genomicunknown
ss35473903SSAHASNP|TA-079.chr1_6434fwd/TA/Gacagaaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagagctgct03/11/05125Genomicunknown
ss87152804BCMHGSC_JDW|JWB-2715328fwd/TA/Gacagaaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagagctgct02/26/0802/26/08130Genomicunknown
ss205556616BCM-HGSC-SUB|BCM_CMT_1011-257370fwd/TA/Gacagaaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagagctgct03/15/1003/16/10132Genomicunknown
ss275679868GMI|GMI_AK_SNP_28fwd/A/Gacagaaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagagctgct12/16/1012/16/10144Genomicunknown
ss1917958127WEILL_CORNELL_DGM|SNV:chr1:16571fwd/TA/Gaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagag10/16/1510/16/15147Genomicunknown
ss2697372904GRF|rs12405900fwd/A/Gaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagag02/13/1702/13/17151Genomicunknown
ss2750601803GNOMAD|rs12405900fwd/A/Gaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagag05/17/1705/17/17151Genomicunknown
ss2986141427SWEGEN|NC_000001.10:g.16571G>Afwd/A/Gaaatccacccgagtgcactgagcacccagaaatcaggtggcctcaaagag05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12405900|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GCTGGGGAGG CCGGACCTTT GGAGACTGTG TGTGGGGGCC TGGGCACTGA CTTCTGCAAC
 CACCTGAGCG CGGGCATCCT GTGTGCAGAT ACTCCCTGCT TCCTCTCTAG CCCCCACCCT
 GCAGAGCTGG ACCCCTGAGC TAGCCATGCT CTGACAGTCT CAGTTGCACA CACGAGCCAG
 CAGAGGGGTT TTGTGCCACT TCTGGATGCT AGGGTTACAC TGGGAGACAC AGCAGTGAAG
 CTGAAATGAA AAATGTGTTG CTGTAGTTTG TTATTAGACC CCTTCTTTCC ATTGGTTTAA
 TTAGGAATGG GGAACCCAGA GCCTCACTTG TTCAGGCTCC CTCTGCCCTA GAAGTGAGAA
 GTCCAGAGCT CTACAGTTTG AAAACCACTA TTTTATGAAC CAAGTAGAAC AAGATATTTG
 AAATGGAAAC TATTCAAAAA ATTGAGAATT TCTGACCACT TAACAAACCC ACAGAAAATC
 CACCCGAGTG CACTGAGCAC
 D
 CCAGAAATCA GGTGGCCTCA AAGAGCTGCT CCCACCTGAA GGAGACGCGC TGCTGCTGCT
 GTCGTCCTGC CTGGCGCCTT GGCCTACAGG GGCCGCGGTT GAGGGTGGGA GTGGGGGTGC
 ACTGGCCAGC ACCTCAGGAG CTGGGGGTGG TGGTGGGGGC GGTGGGGGTG GTGTTAGTAC
 CCCATCTTGT AGGTCTGAAA CACAAAGTGT GGGGTGTCTA GGGAAGAAGG TGTGTGACCA
 GGGAGGTCCC CGGCCCAGCT CCCATCCCAG AACCCAGCTC ACCTACCTTG AGAGGCTCGG
 CTACCTCAGT GTGGAAGGTG GGCAGTTCTG GAATGGTGCC AGGGGCAGAG GGGGCAATGC
 CGGGGCCCAG GTCGGCAATG TACATGAGGT CGTTGGCAAT GCCGGGCAGG TCAGGCAGGT
 AGGATGGAAC ATCAATCTCA GGCACCTGGC CCAGGTCTGG CACATAGAAG TAGTTCTCTG
 GGACCTGCAA GATTAGGCAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077402
dbSNP Blast Analysis
UniGene Cluster ID
459573 553847

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

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