Product Details

SNP ID
rs147547385
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:88094610 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTACAAGGATTGTTTCCTGTTGCA[C/T]TGAGTCCTGGGCAGAAGTTTTGTCC
Phenotype
MIM: 603756
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCG2 PubMed Links

Gene Details

Gene
ABCG2
Gene Name
ATP binding cassette subfamily G member 2 (Junior blood group)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257386.1 2394 Missense Mutation ATG,GTG M593V NP_001244315.1
NM_004827.2 2394 Missense Mutation AAT,AGT N596S NP_004818.2
XM_005263354.3 2394 Missense Mutation AAT,AGT N596S XP_005263411.1
XM_005263355.3 2394 Missense Mutation AAT,AGT N596S XP_005263412.1
XM_005263356.3 2394 Missense Mutation AAT,AGT N594S XP_005263413.1
XM_011532420.2 2394 Missense Mutation AAT,AGT N596S XP_011530722.1
XM_017008852.1 2394 Missense Mutation AAT,AGT N594S XP_016864341.1
XM_017008853.1 2394 Missense Mutation AAT,AGT N596S XP_016864342.1

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