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Reference SNP (refSNP) Cluster Report: rs128621198                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.101356910A>G
  • NC_000023.10:g.100611898A>G
  • NC_000023.11:g.101356910A>G
  • NG_009616.1:g.34315T>C
  • NM_000061.2:c.1223T>C
  • NM_001287344.1:c.1325T>C
  • NM_001287345.1:c.1038+1464T>C
  • NP_000052.1:p.Leu408Pro
  • NP_001274273.1:p.Leu442Pro
  • NW_004070883.1:g.38586A>G
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 ss289224445 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs128621198 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
ss289224445OMIM-CURATED-RECORDS|7041fwd/BC/Tatccaaaggacctgaccttcttgaaggagcggggactggacaatttggggtagtgaagta12/28/1012/28/10133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs128621198|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=133
 TTATGGCCAC CTTGAACCTA AAATTCCCAG ATTCCTCTAA CCAATGAATC CCGTTTCTGA
 GATTGACTTA AGCAAAGACA GATTAGTACT TCTAAAAATT TCCCTTTTAC TAGTTTTCCT
 ATTTCTACCC CAGTAGGGAT TTTTGTCTAT TGTAAGAATT ATACATTCAT GACCCCAAAG
 AATCACACCA AGACTTTATT GTTAGGATCA TGGGAAATTG ATCCAAAGGA CCTGACCTTC
 TTGAAGGAGC
 Y
 GGGGACTGGA CAATTTGGGG TAGTGAAGTA TGGGAAATGG AGAGGCCAGT ACGACGTGGC
 CATCAAGATG ATCAAAGAAG GCTCCATGTC TGAAGATGAA TTCATTGAAG AAGCCAAAGT
 CATGATGTGA GTTATAGCCC AAACTCAACT CTCAATCTAT TTGCTGGAGT CTAGGAATTC
 ACACAACAAC CCACTGAGGC TTAAAGATGA CTTACAGTAA GAGAGGTTTG GGACGAGGGA
 CTGAAGTTTA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000052  
OMIM
300300.0032

  Population Diversity (Alleles in RefSNP orientation) Note: rs128621198 allele is reverse to the genome 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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