Product Details

SNP ID: rs33982662
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:136430285 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCGGGAGAACACTGACTTGTCTCG[A/C]CCCGGCCTCACTTTCACCCGGAAGA
Phenotype: MIM: 613037 MIM: 613036 MIM: 612854
Polymorphism: A/C, 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	2236	Silent Mutation	GGG,GGT	G597G	NP_001305431.1
NM_019892.5	2236	Silent Mutation	GGG,GGT	G598G	NP_063945.2
XM_017014926.1	2236	Silent Mutation	GGG,GGT	G598G	XP_016870415.1

Gene: PMPCA
Gene Name: peptidase, mitochondrial processing alpha subunit

There are no transcripts associated with this gene.

Gene: SEC16A
Gene Name: SEC16 homolog A, endoplasmic reticulum export factor

There are no transcripts associated with this gene.

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