Product Details

SNP ID

rs182407156

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:50192691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCTTGATGCTCCTGGCATTGTTC[A/T]TCCGCTTTGTCAGATCTGTTGGACA

Phenotype

MIM: 300185

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

AKAP4 PubMed Links

Gene Details

Gene

AKAP4

Gene Name

A-kinase anchoring protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003886.2	2146	Missense Mutation	GAA,GAT	E674D	NP_003877.2
NM_139289.1	2146	Missense Mutation	GAA,GAT	E665D	NP_647450.1

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