Product Details

SNP ID

rs34098002

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62605698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCCCATCCCACAGGCAGAGCT[G/T]CCGGTCGTGGCCGCAGGTGAGGAAG

Phenotype

MIM: 606374 MIM: 603947 MIM: 180721

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

B3GAT3 PubMed Links

Gene Details

Gene

B3GAT3

Gene Name

beta-1,3-glucuronyltransferase 3

There are no transcripts associated with this gene.

Gene

EML3

Gene Name

echinoderm microtubule associated protein like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300793.1	2541	Missense Mutation	AAG,CAG	K621Q	NP_001287722.1
NM_001300794.1	2541	Missense Mutation	AAG,CAG	K620Q	NP_001287723.1
NM_153265.2	2541	Missense Mutation	AAG,CAG	K620Q	NP_694997.2
XM_005273878.3	2541	Missense Mutation	AAG,CAG	K621Q	XP_005273935.1
XM_006718489.3	2541	Missense Mutation	AAG,CAG	K671Q	XP_006718552.1
XM_006718490.3	2541	Missense Mutation	AAG,CAG	K671Q	XP_006718553.1
XM_006718491.3	2541	Missense Mutation	AAG,CAG	K670Q	XP_006718554.1
XM_011544896.2	2541	Missense Mutation	AAG,CAG	K670Q	XP_011543198.1
XM_011544897.2	2541	Missense Mutation	AAG,CAG	K619Q	XP_011543199.1
XM_017017480.1	2541	Missense Mutation	AAG,CAG	K504Q	XP_016872969.1
XM_017017481.1	2541	Missense Mutation	AAG,CAG	K504Q	XP_016872970.1
XM_017017482.1	2541	Missense Mutation	AAG,CAG	K504Q	XP_016872971.1
XM_017017483.1	2541	Missense Mutation	AAG,CAG	K403Q	XP_016872972.1

Gene

MTA2

Gene Name

metastasis associated 1 family member 2

There are no transcripts associated with this gene.

Gene

ROM1

Gene Name

retinal outer segment membrane protein 1

There are no transcripts associated with this gene.

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