Product Details

SNP ID

rs150072434

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:59019435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCACCACTGCAGTGACCACAGTT[C/G]TGTTGGGCTCACACCAGTGAACCGA

Phenotype

MIM: 606153 MIM: 612901

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP5E PubMed Links

Gene Details

Gene

ATP5E

Gene Name

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

There are no transcripts associated with this gene.

Gene

SLMO2-ATP5E

Gene Name

SLMO2-ATP5E readthrough

There are no transcripts associated with this gene.

Gene

TUBB1

Gene Name

tubulin beta 1 class VI

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030773.3	182	UTR 5			NP_110400.1
XM_017028085.1	182	Intron			XP_016883574.1

View Full Product Details