Product Details

SNP ID

rs181844791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17560436 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGCGCCAGGCAGCCCTGAAATCA[C/G]CTCGAGACATGTGGGCTGATTACAT

Phenotype

MIM: 609967

Polymorphism

C/G, Transversion 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	218	Missense Mutation	CCT,GCT	P154A	NP_078932.2
XM_005260080.4	218	Missense Mutation	CCT,GCT	P71A	XP_005260137.1
XM_011528297.2	218	Missense Mutation	CCT,GCT	P61A	XP_011526599.1
XM_011528298.2	218	Missense Mutation	CCT,GCT	P61A	XP_011526600.1
XM_011528299.2	218	Intron			XP_011526601.1

Gene

FAM129C

Gene Name

family with sequence similarity 129 member C

There are no transcripts associated with this gene.

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