Product Details

SNP ID

rs139616778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17560444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCAGCCCTGAAATCAGCTCGAGA[C/T]ATGTGGGCTGATTACATCCTGGTAA

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	226	Silent Mutation	GAC,GAT	D156D	NP_078932.2
XM_005260080.4	226	Silent Mutation	GAC,GAT	D73D	XP_005260137.1
XM_011528297.2	226	Silent Mutation	GAC,GAT	D63D	XP_011526599.1
XM_011528298.2	226	Silent Mutation	GAC,GAT	D63D	XP_011526600.1
XM_011528299.2	226	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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