Product Details

SNP ID

rs386833808

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.14:22773945 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

ATGCACGGCTTACCCACGATCCTTC[A/G]GAGGTAAAGCGGTCGCTTATGTTCT

Phenotype

MIM: 601066 MIM: 603593

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OXA1L PubMed Links

Gene Details

Gene

OXA1L

Gene Name

OXA1L, mitochondrial inner membrane protein

There are no transcripts associated with this gene.

Gene

SLC7A7

Gene Name

solute carrier family 7 member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126105.2	1659	Nonsense Mutation	CGA,TGA	R473*	NP_001119577.1
NM_001126106.2	1659	Nonsense Mutation	CGA,TGA	R473*	NP_001119578.1
XM_006720302.1	1659	Nonsense Mutation	CGA,TGA	R473*	XP_006720365.1
XM_011537298.2	1659	Nonsense Mutation	CGA,TGA	R473*	XP_011535600.1
XM_011537299.1	1659	Nonsense Mutation	CGA,TGA	R473*	XP_011535601.1

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