Product Details

SNP ID

rs143297000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:50192674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACTGGTACAGTCAAGTTCTTGA[C/T]GCTCCTGGCATTGTTCTTCCGCTTT

Phenotype

MIM: 300185

Polymorphism

C/T, Transition 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	2163	Missense Mutation	CAT,CGT	H680R	NP_003877.2
NM_139289.1	2163	Missense Mutation	CAT,CGT	H671R	NP_647450.1

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