Product Details

SNP ID

rs510737

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:70861933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGGGATCCACGACGCTTAAAT[A/C]CAGCTTTTGGATTGGACAAAATGAC

Phenotype

MIM: 607497 MIM: 611372

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

B3GAT2 PubMed Links

Gene Details

Gene

B3GAT2

Gene Name

beta-1,3-glucuronyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080742.2	1438	Missense Mutation	GGA,GTA	G261V	NP_542780.1

Gene

SMAP1

Gene Name

small ArfGAP 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001044305.2	1438	UTR 3			NP_001037770.1
NM_001281439.1	1438	UTR 3			NP_001268368.1
NM_001281440.1	1438	UTR 3			NP_001268369.1
NM_021940.4	1438	UTR 3			NP_068759.2
XM_005248760.4	1438	Intron			XP_005248817.1
XM_011536045.2	1438	Intron			XP_011534347.1
XM_011536046.2	1438	Intron			XP_011534348.1
XM_011536047.2	1438	Intron			XP_011534349.1
XM_011536048.2	1438	UTR 3			XP_011534350.1
XM_017011170.1	1438	UTR 3			XP_016866659.1

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