Product Details

SNP ID
rs146556695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129548598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTCTTTTGATTGACATAGCTTCT[A/G]ACAGTGAGTATCTTTCTGAATGTGC
Phenotype
MIM: 300535
Polymorphism
A/G, 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_000276.3 400 Missense Mutation AAC,GAC N79D NP_000267.2
NM_001318784.1 400 Missense Mutation AAC,GAC N80D NP_001305713.1
NM_001587.3 400 Missense Mutation AAC,GAC N79D NP_001578.2
XM_005262422.2 400 UTR 5 XP_005262479.1
XM_011531344.2 400 UTR 5 XP_011529646.1
XM_011531345.2 400 UTR 5 XP_011529647.1
XM_017029554.1 400 Missense Mutation AAC,GAC N79D XP_016885043.1

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