Product Details

SNP ID

rs2270134

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:4649622 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTCAATTCATATGAGCACAATGGA[A/G]ATGATAATATTACAATACCAGGGAG

Phenotype

MIM: 604689 MIM: 603834

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AKAP3 PubMed Links

Gene Details

Gene

AKAP3

Gene Name

A-kinase anchoring protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278309.1		Intron			NP_001265238.1
NM_006422.3		Intron			NP_006413.3
XM_005253664.2		Intron			XP_005253721.1
XM_011520908.1		Intron			XP_011519210.1
XM_011520909.1		Intron			XP_011519211.1
XM_011520910.2		Intron			XP_011519212.1

Gene

NDUFA9

Gene Name

NADH:ubiquinone oxidoreductase subunit A9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005002.4		Intron			NP_004993.1

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