Product Details

SNP ID
rs199604629
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:184051801 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGCCGACCCCCGGCTGCAGCGGC[A/C]TGGGTCCGGGCGGTGTTCGCGGCTT
Phenotype
MIM: 608756
Polymorphism
A/C, Transversion 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_001303420.1 100 Intron NP_001290349.1
NM_001303421.1 100 Intron NP_001290350.1
NM_015101.3 100 Intron NP_055916.1
XM_011509332.2 100 Intron XP_011507634.1
XM_011509334.2 100 Intron XP_011507636.1
XM_011509335.2 100 Intron XP_011507637.1
XM_011509336.2 100 Intron XP_011507638.1
XM_011509337.2 100 Intron XP_011507639.1
XM_011509338.2 100 Intron XP_011507640.1
XM_017000750.1 100 Intron XP_016856239.1
XM_017000751.1 100 Intron XP_016856240.1
Gene
TSEN15
Gene Name
tRNA splicing endonuclease subunit 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127394.3 100 Intron NP_001120866.1
NM_001300764.1 100 Intron NP_001287693.1
NM_001300766.1 100 Intron NP_001287695.1
NM_052965.3 100 Intron NP_443197.1
XM_006711148.1 100 Missense Mutation ATG,CTG M16L XP_006711211.1
XM_011509139.2 100 Missense Mutation ATG,CTG M16L XP_011507441.1
XM_017000228.1 100 Missense Mutation ATG,CTG M16L XP_016855717.1
XM_017000229.1 100 Missense Mutation ATG,CTG M16L XP_016855718.1
XM_017000230.1 100 Missense Mutation ATG,CTG M16L XP_016855719.1

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