Product Details

SNP ID
rs193920956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119150202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAGGGGCCCTGCTGGCGCAAAAG[G/T]GGTAGGGAACAGCCTGGTAGGGGGA
Phenotype
MIM: 607784
Polymorphism
G/T, Transversion 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_001142505.1 249 Missense Mutation AGG,AGT R79S NP_001135977.1
NM_022169.4 249 Missense Mutation AGG,AGT R79S NP_071452.2
XM_011542952.2 249 Intron XP_011541254.1
XM_017018121.1 249 UTR 5 XP_016873610.1

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