Product Details

SNP ID

rs202070026

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17560392 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGAAACACTGGTCTGACTCAC[A/G]CTACGAGCATGTCATGAAGTTGCGC

Phenotype

MIM: 609967

Polymorphism

A/G, 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	174	Missense Mutation	CAC,CGC	H139R	NP_078932.2
XM_005260080.4	174	Missense Mutation	CAC,CGC	H56R	XP_005260137.1
XM_011528297.2	174	Missense Mutation	CAC,CGC	H46R	XP_011526599.1
XM_011528298.2	174	Missense Mutation	CAC,CGC	H46R	XP_011526600.1
XM_011528299.2	174	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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