Product Details

SNP ID
rs139131305
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:99784671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTTGTTTTGAGCAAACTGTTCTG[G/T]TGTGGATTCCCTTGGGCTACCTATG
Phenotype
MIM: 601107
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ABCC2 PubMed Links

Gene Details

Gene
ABCC2
Gene Name
ATP binding cassette subfamily C member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000392.4 321 Missense Mutation GTG,TTG V33L NP_000383.1
XM_006717630.3 321 Intron XP_006717693.1
XM_006717631.3 321 Missense Mutation GTG,TTG V33L XP_006717694.1
XM_011539291.2 321 Missense Mutation GTG,TTG V33L XP_011537593.1
XM_017015675.1 321 Missense Mutation GTG,TTG V33L XP_016871164.1

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