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Reference SNP (refSNP) Cluster Report: rs17857094                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.18625245C>T
  • NC_000023.10:g.18643365C>T
  • NC_000023.11:g.18625245C>T
  • NG_008475.1:g.204641C>T
  • NM_001037343.1:c.2494C>T
  • NM_001323289.1:c.2494C>T
  • NM_003159.2:c.2494C>T
  • NP_001032420.1:p.Gln832Ter
  • NP_001310218.1:p.Gln832Ter
  • NP_003150.1:p.Gln832Ter
  • XP_005274641.1:p.Gln873Ter
  • XP_005274642.1:p.Gln856Ter
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 ss28511396 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17857094 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
ss28511396MGC_GENOME_DIFF|BC036091x37546406-C14609930Tfwd/BC/Tcgccccgagaagatctcagatctgcagaccaaggtgagtggatcctgcaccactgctaga08/25/0408/25/04123cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17857094|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='C/T'|mol=cDNA|build=123
 CCCTGATCTT CTGACGTTGC AGAAATCCAT TCATTCTGCT AGCACTCCAA GCAGCAGACC
 AAAGGAGTGG CGCCCCGAGA AGATCTCAGA TCTGCAGACC
 Y
 AAG
 GTGAGTGGAT CCTGCACCAC TGCTAGACTC TCCAACTCTC CAGTAACTGT CCTGAGGAGC
 GGGGAGGGCA TGCTAGAGAA AACTTAGCCT CTCAATG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
37546406 BC036091
dbSNP Blast Analysis

  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
UNKNOWNUNKNOWNUNKNOWN

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