Product Details

SNP ID
rs201644909
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:130349330 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCAAAGCTTGAAGCGCTTATTC[A/G]TAGAACGTTTAGAAGGTCAGTATAC
Phenotype
MIM: 300242
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC25A14 PubMed Links

Gene Details

Gene
SLC25A14
Gene Name
solute carrier family 25 member 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282195.1 633 Missense Mutation ATA,GTA I133V NP_001269124.1
NM_001282196.1 633 Missense Mutation ATA,GTA I130V NP_001269125.1
NM_001282197.1 633 Missense Mutation ATA,GTA I130V NP_001269126.1
NM_001282198.1 633 Missense Mutation ATA,GTA I98V NP_001269127.1
XM_005262489.4 633 Missense Mutation ATA,GTA I32V XP_005262546.1
XM_011531402.2 633 Missense Mutation ATA,GTA I142V XP_011529704.1
XM_011531403.1 633 Intron XP_011529705.1
XM_017029936.1 633 Missense Mutation ATA,GTA I98V XP_016885425.1
XM_017029937.1 633 Missense Mutation ATA,GTA I142V XP_016885426.1
XM_017029938.1 633 Missense Mutation ATA,GTA I133V XP_016885427.1
XM_017029939.1 633 Missense Mutation ATA,GTA I130V XP_016885428.1
XM_017029940.1 633 Missense Mutation ATA,GTA I32V XP_016885429.1
XM_017029941.1 633 UTR 5 XP_016885430.1
XM_017029942.1 633 UTR 5 XP_016885431.1
XM_017029943.1 633 UTR 5 XP_016885432.1

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