Product Details

SNP ID

rs200949096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22766682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCTTACTGCGCAGGCGCAAAAG[C/T]AAGTCCTCTTCCGGGCAAAATGGCG

Phenotype

MIM: 601066 MIM: 603593

Polymorphism

C/T, Transition 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	161	Missense Mutation	GCA,GTA	A54V	NP_005006.3

Gene

SLC7A7

Gene Name

solute carrier family 7 member 7

There are no transcripts associated with this gene.

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