Product Details

SNP ID
rs113286118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119150009 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCCGTGGGCTGTGGACTAGGGC[C/T]GGGGGCTGTGGCCATGGCCGTGACG
Phenotype
MIM: 607784
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCG4 PubMed Links

Gene Details

Gene
ABCG4
Gene Name
ATP binding cassette subfamily G member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142505.1 56 Missense Mutation CCG,CTG P15L NP_001135977.1
NM_022169.4 56 Missense Mutation CCG,CTG P15L NP_071452.2
XM_011542952.2 56 Intron XP_011541254.1
XM_017018121.1 56 UTR 5 XP_016873610.1

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