Product Details

SNP ID

rs3746317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17556110 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGCGCGTGCTTCCTGCTCGCTACCC[C/T]CATCGGGACGGTTCTACGCATGCCC

Phenotype

MIM: 609967

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COLGALT1 PubMed Links

Gene Details

Gene

COLGALT1

Gene Name

collagen beta(1-O)galactosyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024656.3	2805	Intron			NP_078932.2
XM_005260080.4	2805	Intron			XP_005260137.1
XM_011528297.2	2805	Intron			XP_011526599.1
XM_011528298.2	2805	Intron			XP_011526600.1
XM_011528299.2	2805	Intron			XP_011526601.1

Gene

FAM129C

Gene Name

family with sequence similarity 129 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098524.1	2805	Intron			NP_001091994.1
NM_001321826.1	2805	Intron			NP_001308755.1
NM_001321827.1	2805	Intron			NP_001308756.1
NM_001321828.1	2805	Intron			NP_001308757.1
NM_173544.4	2805	Intron			NP_775815.2
XM_005259813.3	2805	Intron			XP_005259870.1
XM_005259814.3	2805	Intron			XP_005259871.1
XM_011527781.2	2805	Intron			XP_011526083.1
XM_011527786.2	2805	UTR 3			XP_011526088.1
XM_011527787.2	2805	Intron			XP_011526089.1
XM_011527789.1	2805	Intron			XP_011526091.1
XM_017026453.1	2805	Intron			XP_016881942.1
XM_017026454.1	2805	Intron			XP_016881943.1
XM_017026455.1	2805	Intron			XP_016881944.1
XM_017026456.1	2805	Intron			XP_016881945.1
XM_017026457.1	2805	Intron			XP_016881946.1

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