Product Details

SNP ID

rs143495981

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:65967904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAAACAGATCACATCCACATACG[C/G]AGCCTAGGACCAGAGCAGCAGAGCC

Phenotype

MIM: 611499 MIM: 608838

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GUSB PubMed Links

Gene Details

Gene

GUSB

Gene Name

glucuronidase beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000181.3	1355	Missense Mutation	CCG,GCG	P494A	NP_000172.2
NM_001284290.1	1355	Missense Mutation	CCG,GCG	P348A	NP_001271219.1
NM_001293104.1	1355	Missense Mutation	CCG,GCG	P304A	NP_001280033.1
NM_001293105.1	1355	Missense Mutation	CCG,GCG	P275A	NP_001280034.1
XM_005250297.3	1355	Missense Mutation	CCG,GCG	P443A	XP_005250354.1
XM_011516113.1	1355	Missense Mutation	CCG,GCG	P327A	XP_011514415.1
XM_011516114.1	1355	Missense Mutation	CCG,GCG	P270A	XP_011514416.1
XM_017012091.1	1355	Missense Mutation	CCG,GCG	P276A	XP_016867580.1
XM_017012092.1	1355	Missense Mutation	CCG,GCG	P253A	XP_016867581.1
XM_017012093.1	1355	Missense Mutation	CCG,GCG	P219A	XP_016867582.1

Gene

VKORC1L1

Gene Name

vitamin K epoxide reductase complex subunit 1 like 1

There are no transcripts associated with this gene.

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