Product Details

SNP ID
rs148331618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122930120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTCCACGGTGCTCAGCCGGTGCG[C/T]GATGATGAGTACCGTGTGCTTCTGC
Phenotype
MIM: 605453
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCB9 PubMed Links

Gene Details

Gene
ABCB9
Gene Name
ATP binding cassette subfamily B member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243013.1 2402 Missense Mutation ACG,GCG T635A NP_001229942.1
NM_001243014.1 2402 Intron NP_001229943.1
NM_019624.3 2402 Missense Mutation ACG,GCG T655A NP_062570.1
NM_019625.3 2402 Missense Mutation ACG,GCG T698A NP_062571.1
NM_203444.3 2402 Intron NP_982269.2
XM_005253558.2 2402 Missense Mutation ACG,GCG T480A XP_005253615.1
XM_011538095.2 2402 Missense Mutation ACG,GCG T698A XP_011536397.1
XM_011538096.2 2402 Missense Mutation ACG,GCG T698A XP_011536398.1
XM_011538098.2 2402 Missense Mutation ACG,GCG T480A XP_011536400.1
XM_011538099.2 2402 Intron XP_011536401.1
XM_017019103.1 2402 Missense Mutation ACG,GCG T698A XP_016874592.1
XM_017019104.1 2402 Missense Mutation ACG,GCG T417A XP_016874593.1

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