Product Details

SNP ID
rs113781963
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:35944094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGGTTGGGCTCCATCTCAGGCT[C/T]AGTCTCAGGCTGGGGCTCCATCTCG
Phenotype
MIM: 608480
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC26A8 PubMed Links

Gene Details

Gene
SLC26A8
Gene Name
solute carrier family 26 member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193476.1 2854 Missense Mutation AAG,GAG K907E NP_001180405.1
NM_052961.3 2854 Missense Mutation AAG,GAG K907E NP_443193.1
NM_138718.2 2854 Missense Mutation AAG,GAG K802E NP_619732.2
XM_011514294.2 2854 Missense Mutation AAG,GAG K881E XP_011512596.1
XM_017010235.1 2854 Missense Mutation AAG,GAG K907E XP_016865724.1

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