Product Details

SNP ID
rs143999252
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:32833305 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACAGAGATGAGTGTCATCAAGA[C/T]GGGAATGACTACGGGCACCTGGAGA
Phenotype
MIM: 604144
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC7A9 PubMed Links

Gene Details

Gene
SLC7A9
Gene Name
solute carrier family 7 member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126335.1 1360 Missense Mutation ATC,GTC I415V NP_001119807.1
NM_001243036.1 1360 Missense Mutation ATC,GTC I415V NP_001229965.1
NM_014270.4 1360 Missense Mutation ATC,GTC I415V NP_055085.1
XM_006722992.1 1360 Missense Mutation ATC,GTC I188V XP_006723055.1
XM_011526402.2 1360 Missense Mutation ATC,GTC I415V XP_011524704.1
XM_017026230.1 1360 Missense Mutation ATC,GTC I327V XP_016881719.1
Gene
TDRD12
Gene Name
tudor domain containing 12
There are no transcripts associated with this gene.

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