Product Details

SNP ID

rs139157386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:233060598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCGAGTCCATCTCCCGGGCATA[C/T]GCGCTCTGCGTGCTGTGAGTACAAC

Phenotype

MIM: 601582

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

INPP5D PubMed Links

Gene Details

Gene

INPP5D

Gene Name

inositol polyphosphate-5-phosphatase D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017915.2	632	Silent Mutation	TAC,TAT	Y40Y	NP_001017915.1
NM_005541.4	632	Silent Mutation	TAC,TAT	Y40Y	NP_005532.2
XM_017004004.1	632	UTR 5			XP_016859493.1

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