Product Details

SNP ID

rs34783571

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.4:88092344 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TTCCACAAGCCCCAGGGTGAGAGAT[C/T]GATGCCCTGCTTTACCAAATATTCT

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	2465	UTR 3			NP_001244315.1
NM_004827.2	2465	Missense Mutation	AAT,GAT	N620D	NP_004818.2
XM_005263354.3	2465	Missense Mutation	AAT,GAT	N620D	XP_005263411.1
XM_005263355.3	2465	Missense Mutation	AAT,GAT	N620D	XP_005263412.1
XM_005263356.3	2465	Missense Mutation	AAT,GAT	N618D	XP_005263413.1
XM_011532420.2	2465	Missense Mutation	AAT,GAT	N620D	XP_011530722.1
XM_017008852.1	2465	Missense Mutation	AAT,GAT	N618D	XP_016864341.1
XM_017008853.1	2465	Missense Mutation	AAT,GAT	N620D	XP_016864342.1

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