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Reference SNP (refSNP) Cluster Report: rs77026477                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0037/436 (ExAC)
C=0.0120/60 (1000 Genomes)
C=0.0130/169 (GO-ESP)
C=0.0112/1406 (TOPMED)
HGVS Names
  • CM000663.2:g.1185115T>C
  • NC_000001.10:g.1120495T>C
  • NC_000001.11:g.1185115T>C
  • NM_001130045.1:c.1401+6T>C
  • NM_153254.2:c.1188T>C
  • NP_694986.2:p.Arg396=
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 ss341924456 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs77026477 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
ss161037389ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP1-1110358-128_T_R_1587984446rev/TA/Gatctcactcccagactggagggcacagtggcgcaccttgagggtggtgaagacccagtcc08/04/0910/05/09131Genomicunknown
ss197889708BUSHMAN|BUSHMAN-chr1-1110357byFreqfwd/BC/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat02/16/1009/05/14132Genomicunknown
ss2174057681000GENOMES|pilot_3_LWK_9_chr1_1110358byFreqfwd/BC/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat04/09/1009/05/14132Genomicunknown
ss2174109191000GENOMES|pilot_3_YRI_11_chr1_1110358byFreqfwd/BC/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat04/09/1009/05/14132Genomicunknown
ss2181922951000GENOMES|pilot_1_YRI_1978_chr1_1110358fwd/C/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat04/22/1004/22/10132Genomicunknown
ss341924456NHLBI-ESP|ESP2500-chr1-1120495byFreqfwd/BC/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat03/25/1109/05/14134Genomicunknown
ss479210666ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp15189684-0_T_R_1835738326fwd/BC/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt01/30/1208/28/15146Genomicunknown
ss4897146381000GENOMES|20110521_exome_291430_chr1_1120495fwd/BC/Tggactgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagtgagat02/10/1202/21/12137Genomicunknown
ss553714425TISHKOFF|snp_chr1_1120495fwd/BC/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt11/22/1211/22/12138Genomicunknown
ss1067414453JMKIDD_LAB|HGDP_exomes_chr1_1120495fwd/BC/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt07/09/1407/09/14142Genomicunknown
ss1067614030JMKIDD_LAB|HGDP_WGS_chr1_1120495fwd/BC/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt07/10/1407/10/14142Genomicunknown
ss12893531791000GENOMES|PHASE3_V1_18465fwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt08/16/1408/16/14142Genomicunknown
ss1685226091EVA_EXAC|EVA_EXAC_9894fwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt03/04/1503/04/15144Genomicunknown
ss1917964785WEILL_CORNELL_DGM|SNV:chr1:1120495fwd/BC/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt10/16/1510/16/15147Genomicunknown
ss2159391953HUMAN_LONGEVITY|HLI-1-1185115-T-Cfwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt11/18/1611/18/16150Genomicunknown
ss2731000427GNOMAD|exomes_rs77026477fwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt05/17/1705/17/17151Genomicunknown
ss2746174416GNOMAD|coding_rs77026477fwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt05/17/1705/17/17151Genomicunknown
ss2750679731GNOMAD|rs77026477fwd/C/Tgggtcttcaccaccctcaaggtgcgccactgtgccctccagtctgggagt05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs77026477|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGCAGAAGCC TTCTAGGTTA GGGGGATGTT CTCTTGGGGA CCCCCGTGAG GACAGGCCCT
 CCGGACAGTC TGGGAGCCAG TCTCCAGGCA CCGTGTGCCC CCAGTTCATG CAGAAGAAGA
 GCCCTCTGTA CATGCTGCTG AAGGAGCACA CGGTGTGGAG CATGGAACAC CTCAACCGCT
 ACATCAGTGA CACGTTCTGG AAGGCCCGGG GCCTCGCCAA GGACTGGGTC TTCACCACCC
 TCAAGGTGCG
 Y
 CCACTGTGCC CTCCAGTCTG GGAGTGAGAT CCCTCGGGGC GGGGGTGTGT GGTCAGGCTG
 GGCACCAGGC ACACAGATGT CCGTGGCGTG CGTGGGCGGC TGCGCTGAAG TGTGACCTGA
 CCGTGTGGAA CCAAACCCTT CCAGCGTCTC TGCTCACTTA GCTGGCAGTG CCTGTCCCCA
 GCAGCCAGCA AAGGCCCGGA CGGAAAGCCC AGTCGGGGGT CTGTCGGCAC GAGTCCCGCG
 GGCAGCCTCG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1289353179EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.044600000.95539999
AMR 694AF 0.001400000.99859995
SAS 978AF 1.00000000
ss1685226091ExAc_Aggregated_Populations121394AF 0.003624560.99637544
ss197889708BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss217405768pilot_3_LWK_exon_capture_panel 214AF 0.098130840.90186918
ss217410919pilot_3_YRI_exon_capture_panel 188AF 0.015957450.98404253
ss218192295pilot_1_YRI_low_coverage_panel 118AF 0.008474580.99152541
ss341924456ESP_Cohort_Populations 4530GF0.001324500.032671080.966004430.010028000.017660040.98233998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.007+/-0.0600000

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