Product Details

SNP ID
rs17164679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:7188879 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGATAAGCATGATCTCTGATGTAAA[C/T]TAAAAGCTGAACATACATATGTGAT
Phenotype
MIM: 610555
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C1GALT1 PubMed Links

Gene Details

Gene
C1GALT1
Gene Name
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020156.4 Intron NP_064541.1
XM_005249812.1 Intron XP_005249869.1
XM_011515453.2 Intron XP_011513755.1
XM_011515455.2 Intron XP_011513757.1
XM_011515456.2 Intron XP_011513758.1
XM_017012442.1 Intron XP_016867931.1
XM_017012443.1 Intron XP_016867932.1
XM_017012444.1 Intron XP_016867933.1
XM_017012445.1 Intron XP_016867934.1
XM_017012446.1 Intron XP_016867935.1
XM_017012447.1 Intron XP_016867936.1
XM_017012448.1 Intron XP_016867937.1
XM_017012449.1 Intron XP_016867938.1

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