Product Details

SNP ID

rs14518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:79361170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCATTTATCAATGGCACGTTT[T/G]TTGAAACCTGTAAGGAAATGTGCAA

Phenotype

MIM: 300222

Polymorphism

T/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	1048	Missense Mutation	AAA,AAC	K193N	NP_001165052.1
NM_004867.4	1048	Missense Mutation	AAA,AAC	K237N	NP_004858.1

View Full Product Details