Product Details

SNP ID

rs199875003

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136429780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATTCCTAGTAAGTACAGTTCTCT[A/T]TCAAATTTGCCAGCTGCCAACGGAA

Phenotype

MIM: 613037 MIM: 613036

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

INPP5E PubMed Links

Gene Details

Gene

INPP5E

Gene Name

inositol polyphosphate-5-phosphatase E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318502.1	2230	Missense Mutation	GAA,GAT	E609D	NP_001305431.1
NM_019892.5	2230	Missense Mutation	GAA,GAT	E610D	NP_063945.2
XM_017014926.1	2230	Intron			XP_016870415.1

Gene

PMPCA

Gene Name

peptidase, mitochondrial processing alpha subunit

There are no transcripts associated with this gene.

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