Product Details

SNP ID: rs201685109
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:46105226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGTGGTTAAAAAAAATATTTGGAGA[C/T]CATCCTATTCCACAGTATGAGGTGA
Phenotype: MIM: 164360 MIM: 608775
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ATP5A1 PubMed Links

Gene Details

Gene: ATP5A1
Gene Name: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001935.2		Intron			NP_001001935.1
NM_001001937.1		Intron			NP_001001937.1
NM_001257334.1		Intron			NP_001244263.1
NM_001257335.1		Intron			NP_001244264.1
NM_004046.5		Intron			NP_004037.1
XM_017025789.1		Intron			XP_016881278.1

Gene: HAUS1
Gene Name: HAUS augmin like complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138443.3		Intron			NP_612452.1

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