Product Details

SNP ID

rs199522527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22773962 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCTTCGGAGGTAAAGCGGTCGC[A/T]TATGTTCTGGCACTCTGATGATGAG

Phenotype

MIM: 601066 MIM: 603593

Polymorphism

A/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	1642	Missense Mutation	AAG,ATG	K467M	NP_001119577.1
NM_001126106.2	1642	Missense Mutation	AAG,ATG	K467M	NP_001119578.1
XM_006720302.1	1642	Missense Mutation	AAG,ATG	K467M	XP_006720365.1
XM_011537298.2	1642	Missense Mutation	AAG,ATG	K467M	XP_011535600.1
XM_011537299.1	1642	Missense Mutation	AAG,ATG	K467M	XP_011535601.1

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