Product Details

SNP ID

rs149278960

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17564851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTAATTCTAGAACATTTTCATT[A/C]CCCAGAAAGAAAACCCTATTCCCAT

Phenotype

MIM: 609967

Polymorphism

A/C, 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		Intron			NP_078932.2
XM_005260080.4		Intron			XP_005260137.1
XM_011528297.2		Intron			XP_011526599.1
XM_011528298.2		Intron			XP_011526600.1
XM_011528299.2		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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