Product Details

SNP ID

rs62194575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:233060576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGGGAGCTTCCTCGTGCGTGCCA[A/G]CGAGTCCATCTCCCGGGCATACGCG

Phenotype

MIM: 601582

Polymorphism

A/G, 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	610	Missense Mutation	AAC,AGC	N33S	NP_001017915.1
NM_005541.4	610	Missense Mutation	AAC,AGC	N33S	NP_005532.2
XM_017004004.1	610	UTR 5			XP_016859493.1

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