Product Details

SNP ID

rs149783799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:79362665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCATCAGATAGCAGTTCCCCAG[C/G]AACAAGTCCAGGTAAGCAGTCATTC

Phenotype

MIM: 300222

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ITM2A PubMed Links

Gene Details

Gene

ITM2A

Gene Name

integral membrane protein 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171581.1	805	Missense Mutation	TTC,TTG	F112L	NP_001165052.1
NM_004867.4	805	Missense Mutation	TTC,TTG	F156L	NP_004858.1

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