Product Details

SNP ID
rs60147949
Assay Type
Functionally Tested
NCBI dbSNP Submissions
37
Location
Chr.1:183937237 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGCCCCCCATATGGCTGCATGGT[A/G]CATGGACAGTGATGAGGAACGGTGC
Phenotype
MIM: 605667
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
COLGALT2 PubMed Links

Gene Details

Gene
COLGALT2
Gene Name
collagen beta(1-O)galactosyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303420.1 3332 Intron NP_001290349.1
NM_001303421.1 3332 UTR 3 NP_001290350.1
NM_015101.3 3332 UTR 3 NP_055916.1
XM_011509332.2 3332 UTR 3 XP_011507634.1
XM_011509334.2 3332 Intron XP_011507636.1
XM_011509335.2 3332 Intron XP_011507637.1
XM_011509336.2 3332 Intron XP_011507638.1
XM_011509337.2 3332 Intron XP_011507639.1
XM_011509338.2 3332 Intron XP_011507640.1
XM_017000750.1 3332 Intron XP_016856239.1
XM_017000751.1 3332 Intron XP_016856240.1
Gene
RGL1
Gene Name
ral guanine nucleotide dissociation stimulator like 1
There are no transcripts associated with this gene.

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