Product Details

SNP ID
rs200395431
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:168923759 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATCCGCGTTCTGGATGGTGGACA[A/T]GCGATGGGCAATGACAATGCAGGTC
Phenotype
MIM: 603201
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ABCB11 PubMed Links

Gene Details

Gene
ABCB11
Gene Name
ATP binding cassette subfamily B member 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003742.2 2811 Missense Mutation ATG,TTG M1277L NP_003733.2
XM_006712817.3 2811 Missense Mutation ATG,TTG M1291L XP_006712880.1
XM_011512077.2 2811 Missense Mutation ATG,TTG M1311L XP_011510379.1
XM_011512078.2 2811 Missense Mutation ATG,TTG M1311L XP_011510380.1
XM_011512080.2 2811 Intron XP_011510382.1
XM_011512081.2 2811 Missense Mutation ATG,TTG M719L XP_011510383.1
XM_017005165.1 2811 Intron XP_016860654.1
XM_017005166.1 2811 Missense Mutation ATG,TTG M1054L XP_016860655.1
XM_017005167.1 2811 Missense Mutation ATG,TTG M872L XP_016860656.1

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