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SNP ID:
rs2231142
Gene
ABCG2
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.4: 88131171 - 88131171 on Build GRCh38
Polymorphism:
G/T, Transversion substitution
Context Sequence [VIC/FAM]:

GCAAGCCGAAGAGCTGCTGAGAACT[G/T]TAAGTTTTCTCTCACCGTCAGAGTG

Assay ID C__15854163_70
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 603756

Literature Links:

 ABCG2 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.12)
(0.88)
Caucasian
T (0.09)
(0.91)
CEPH (CEU)
A (0.11)
(0.89)
EAS
A (0.29)
(0.71)
African American
T (0.06)
(0.94)
YRI (Yoruba)
A (0.00)
(1.00)
SAS
A (0.10)
(0.90)
Japanese
T (0.33)
(0.67)
JPT (Japanese)
A (0.34)
(0.66)
AFR
A (0.01)
(0.99)
Chinese
T (0.44)
(0.56)
CHB (Han Chinese)
A (0.29)
(0.71)
EUR
A (0.09)
(0.91)
AMR
A (0.14)
(0.86)
ABCG2 - ATP binding cassette subfamily G member 2 (Junior blood group)
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001257386.1 1028 Missense Mutation AAG,CAG K,Q 141 NP_001244315.1
NM_004827.2 1028 Missense Mutation AAG,CAG K,Q 141 NP_004818.2
XM_005263354.3 1028 Missense Mutation AAG,CAG K,Q 141 XP_005263411.1
XM_005263355.3 1028 Missense Mutation AAG,CAG K,Q 141 XP_005263412.1
XM_005263356.3 1028 Missense Mutation AAG,CAG K,Q 141 XP_005263413.1
XM_011532420.2 1028 Missense Mutation AAG,CAG K,Q 141 XP_011530722.1
XM_017008852.1 1028 Missense Mutation AAG,CAG K,Q 141 XP_016864341.1
XM_017008853.1 1028 Missense Mutation AAG,CAG K,Q 141 XP_016864342.1

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