Product Details

SNP ID
rs140012242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:173168956 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGACCCAAGCCCGCTGAGCAGG[A/G]TGAGGGTGAGTGACCCGCCCGGCCC
Phenotype
MIM: 605005
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GALNT7 PubMed Links

Gene Details

Gene
GALNT7
Gene Name
polypeptide N-acetylgalactosaminyltransferase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017423.2 204 Missense Mutation ATG,GTG M41V NP_059119.2
XM_005263062.1 204 Missense Mutation ATG,GTG M41V XP_005263119.1
XM_011532025.2 204 Intron XP_011530327.1
XM_017008292.1 204 Intron XP_016863781.1
XM_017008293.1 204 Intron XP_016863782.1
Gene
LOC101930370
Gene Name
uncharacterized LOC101930370
There are no transcripts associated with this gene.

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