Product Details

SNP ID
rs114429407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:57488971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAGAAACCTCGAACAATGGTGT[A/G]CAGGACAAAGGTCACAAACTAAAAC
Phenotype
MIM: 603733
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC43A1 PubMed Links

Gene Details

Gene
SLC43A1
Gene Name
solute carrier family 43 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198810.1 1449 Missense Mutation CAC,TAC H452Y NP_001185739.1
NM_003627.5 1449 Missense Mutation CAC,TAC H452Y NP_003618.1
XM_005274358.4 1449 Missense Mutation CAC,TAC H468Y XP_005274415.1
XM_011545320.2 1449 Missense Mutation CAC,TAC H437Y XP_011543622.1
XM_011545321.2 1449 Missense Mutation CAC,TAC H196Y XP_011543623.1
XM_011545322.1 1449 Missense Mutation CAC,TAC H196Y XP_011543624.1
XM_017018451.1 1449 Missense Mutation CAC,TAC H452Y XP_016873940.1
XM_017018452.1 1449 Missense Mutation CAC,TAC H421Y XP_016873941.1
XM_017018453.1 1449 Missense Mutation CAC,TAC H196Y XP_016873942.1

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