Product Details

SNP ID

rs138657266

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119914820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATCTCAACTGCTGACCTACCCG[C/T]AGCACGAATCTCTGCTGGTACCTAC

Phenotype

MIM: 300462

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AKAP14 PubMed Links

Gene Details

Gene

AKAP14

Gene Name

A-kinase anchoring protein 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008534.1	521	Intron			NP_001008534.1
NM_001008535.1	521	Intron			NP_001008535.1
NM_178813.5	521	Missense Mutation	GCA,GTA	A128V	NP_848928.1

View Full Product Details