Product Details

SNP ID
rs61752970
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129540745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGACCCTTGACTAGCGCCCGCATA[C/T]TGTCGAGGGTATGGAGATGAAGGGT
Phenotype
MIM: 300535
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OCRL PubMed Links

Gene Details

Gene
OCRL
Gene Name
OCRL, inositol polyphosphate-5-phosphatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000276.3 206 Missense Mutation ACT,ATT T14I NP_000267.2
NM_001318784.1 206 Missense Mutation ACT,ATT T15I NP_001305713.1
NM_001587.3 206 Missense Mutation ACT,ATT T14I NP_001578.2
XM_005262422.2 206 Intron XP_005262479.1
XM_011531344.2 206 Intron XP_011529646.1
XM_011531345.2 206 Intron XP_011529647.1
XM_017029554.1 206 Missense Mutation ACT,ATT T14I XP_016885043.1

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