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Reference SNP(refSNP) Cluster Report: rs121909563                 ** With pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/137
Map to Genome Build:37.4
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Clinical Channel:link to VariationViewerlink to OMIM
Clinical Significance:With pathogenic allele [detail]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
NC_000001.10:g.173881079C>T
NG_012462.1:g.10438G>A
NM_000488.3:c.482G>A
NP_000479.1:p.Arg161Gln
NT_004487.19:g.25369721C>T
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer) back to top

  GeneView back to top

  Submitter records for this RefSNP Cluster back to top
The submission ss263197768 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121909563 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
ss263197768OMIM-CURATED-RECORDS|366fwd/TA/Gtccacttcttctttgccaaactgaactgccactctatcgaaaagccaacaaatcctccaa11/04/1011/04/10133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121909563|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=133
 TTATCCTTTT ATTCATCAGA ACACAAGAGT TGAGCATTTA TGCTGTCCCA GGTACTGTGC
 TTGAAGGAGT TAACAACTGA GGTGGCTATT AGTCAGAGAC TGACCAGCAT GTGCTCACCA
 CCCATGTTAA CTAGGCAGCC CACCAAACCC ACCACCATTT TTTTTTGACT TCTATAGGTA
 TTTAAGTTTG ACACCATATC TGAGAAAACA TCTGATCAGA TCCACTTCTT CTTTGCCAAA
 CTGAACTGCC
 R
 ACTCTATCGA AAAGCCAACA AATCCTCCAA GTTAGTATCA GCCAATCGCC TTTTTGGAGA
 CAAATCCCTT ACCTTCAATG AGACCTACCA GGACATCAGT GAGTTGGTAT ATGGAGCCAA
 GCTCCAGCCC CTGGACTTCA AGGTGAGTTG CAGATGTTAC CCCTGACCTC CGAGTTCTTC
 CTCTCCACTC AGAGATTGAG GAGGTGGAGA AACAGCATCC AAATTCACAC TGCTTTGCTG
 CTGAAGACTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000479  
OMIM
107300.0034

  Population Diversity 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
UNKNOWNUNKNOWNUNKNOWN

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