Product Details

SNP ID

rs1327146

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:184056710 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATACCATTGTCATGTGGATAACCA[C/G]TTTTTCTACCTCCATTTACTGAATA

Phenotype

MIM: 608756

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COLGALT2 PubMed Links

Gene Details

Gene

COLGALT2

Gene Name

collagen beta(1-O)galactosyltransferase 2

There are no transcripts associated with this gene.

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		Intron			NP_001120866.1
NM_001300764.1		Intron			NP_001287693.1
NM_001300766.1		Intron			NP_001287695.1
NM_052965.3		Intron			NP_443197.1
XM_006711148.1		Intron			XP_006711211.1
XM_011509139.2		Intron			XP_011507441.1
XM_017000228.1		Intron			XP_016855717.1
XM_017000229.1		Intron			XP_016855718.1
XM_017000230.1		Intron			XP_016855719.1

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