Product Details

SNP ID

rs139918315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22766630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAATTCTGGCTTCATGCCCGCCTC[C/G]AAAAGTGCTTCCTCTCGAGGGGTTG

Phenotype

MIM: 601066 MIM: 603593

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

OXA1L PubMed Links

Gene Details

Gene

OXA1L

Gene Name

OXA1L, mitochondrial inner membrane protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005015.3	109	Missense Mutation	CAA,GAA	Q37E	NP_005006.3

Gene

SLC7A7

Gene Name

solute carrier family 7 member 7

There are no transcripts associated with this gene.

View Full Product Details