Product Details

SNP ID
rs139619724
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:22774471 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAGTTAATGAGCTGGAAGATGTC[G/T]TCCACGCACAAGTAGATCAATGCCA
Phenotype
MIM: 601066 MIM: 603593
Polymorphism
G/T, Transversion 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 1370 Missense Mutation GAA,GAC E376D NP_001119577.1
NM_001126106.2 1370 Missense Mutation GAA,GAC E376D NP_001119578.1
XM_006720302.1 1370 Missense Mutation GAA,GAC E376D XP_006720365.1
XM_011537298.2 1370 Missense Mutation GAA,GAC E376D XP_011535600.1
XM_011537299.1 1370 Missense Mutation GAA,GAC E376D XP_011535601.1

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