Overview

Variant ID 27804
Entrez Gene ID 9472
Gene AKAP6 (GeneCards)
Location hg19 14:32817908-32817908
hg38 14:32348702-32348702
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000014.8:g.32817908 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 107349540

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.002
SNP ID (dbSNP ID version 137) rs148040150
EIGEN score -0.3112
CADD Raw score (version 1.3) 0.025664 (Deleterious)
FATHMM raw prediction score 0.10128 (Tolerated)
Deleterious probability by DeFine 0.2062 (Neutral)
Entrez Gene ID 9472 (NCBI Gene)
Official Gene Symbol AKAP6 (GeneCards)
Number of variants in AKAP6 in this database 7 (view all the variants)
Full name A-kinase anchoring protein 6
Band 14q12
Other IDs Vega: OTTHUMG00000140207
OMIM: 604691
HGNC: HGNC:376
Ensembl: ENSG00000151320
Other names ADAP6, PRKA6, mAKAP, ADAP100, AKAP100
Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID