Product Details

SNP ID: rs192483778
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:7788272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCTTGCAGCCGCAATGGTATGGCA[A/G]CTTGCGGGAAGATCGGCAGGACCGC
Phenotype: MIM: 108729 MIM: 601720
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ATP5C1 PubMed Links

Gene Details

Gene: ATP5C1
Gene Name: ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001973.2		Intron			NP_001001973.1
NM_001320886.1		Intron			NP_001307815.1
NM_005174.3		Intron			NP_005165.1
XM_017016290.1		Intron			XP_016871779.1

Gene: KIN
Gene Name: Kin17 DNA and RNA binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012311.3		Intron			NP_036443.1
XM_006717434.3		Intron			XP_006717497.1
XM_006717435.3		Intron			XP_006717498.1
XM_011519427.1		Intron			XP_011517729.1
XM_017015946.1		Intron			XP_016871435.1

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