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SNP ID: rs112384116
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:62613571 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATGCAGCTCTATACCCTCCCTGGC[A/G]AGGGGTCCTGGGCCCGCTGCTGGTG
Phenotype: MIM: 606374 MIM: 180721
Polymorphism: A/G, Transition 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	831	Intron			NP_001287722.1
NM_001300794.1	831	Intron			NP_001287723.1
NM_153265.2	831	Intron			NP_694997.2
XM_005273878.3	831	Intron			XP_005273935.1
XM_006718489.3	831	Intron			XP_006718552.1
XM_006718490.3	831	Intron			XP_006718553.1
XM_006718491.3	831	Intron			XP_006718554.1
XM_011544896.2	831	Intron			XP_011543198.1
XM_011544897.2	831	Intron			XP_011543199.1
XM_017017480.1	831	Intron			XP_016872969.1
XM_017017481.1	831	Intron			XP_016872970.1
XM_017017482.1	831	Intron			XP_016872971.1
XM_017017483.1	831	Intron			XP_016872972.1

Gene: ROM1
Gene Name: retinal outer segment membrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000327.3	831	Missense Mutation	CAA,CGA	Q97R	NP_000318.1

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