Product Details

SNP ID

rs114422129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:25735312 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGATTGGGGCGTTGTGCTTCCTTG[C/T]ACCTCGTGAGCCTCCGTTGCCTTGG

Phenotype

MIM: 603152 MIM: 600609

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP5J PubMed Links

Gene Details

Gene

ATP5J

Gene Name

ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003696.1	343	Intron			NP_001003696.1
NM_001003697.1	343	Intron			NP_001003697.1
NM_001003701.1	343	UTR 5			NP_001003701.1
NM_001003703.1	343	UTR 5			NP_001003703.1
NM_001320266.1	343	UTR 5			NP_001307195.1
NM_001320267.1	343	UTR 5			NP_001307196.1
NM_001685.4	343	UTR 5			NP_001676.2

Gene

GABPA

Gene Name

GA binding protein transcription factor alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197297.1	343	Intron			NP_001184226.1
NM_002040.3	343	UTR 5			NP_002031.2
XM_005260938.4	343	Intron			XP_005260995.1
XM_011529520.2	343	UTR 5			XP_011527822.1
XM_011529521.2	343	UTR 5			XP_011527823.1
XM_017028313.1	343	Intron			XP_016883802.1

View Full Product Details