Product Details

SNP ID

rs139330044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:46105256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATTCCACAGTATGAGGTGAACCC[A/C]CGGACCACAGAGATTTTACATCACC

Phenotype

MIM: 164360 MIM: 608775

Polymorphism

A/C, Transversion 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

There are no transcripts associated with this gene.

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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