Product Details

SNP ID

rs193271462

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:50191061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGCAAACTTCATGACCTCTTGAA[G/T]AAGACCTCCTACACTGTACCCCTTC

Phenotype

MIM: 300185

Polymorphism

G/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	2588	Missense Mutation	ATT,CTT	I822L	NP_003877.2
NM_139289.1	2588	Missense Mutation	ATT,CTT	I813L	NP_647450.1

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