Product Details

SNP ID
rs12126245
Assay Type
Functionally tested
NCBI dbSNP Submissions
20
Location
Chr.1:94983609 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGCACTCATCGGACAGGCATGTGTT[A/G]CTCTTCTCTGACTGCTCTGTGGACC
Phenotype
MIM: 612866
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALG14 PubMed Links

Gene Details

Gene
ALG14
Gene Name
ALG14, UDP-N-acetylglucosaminyltransferase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305242.1 520 Intron NP_001292171.1
NM_144988.3 520 Intron NP_659425.1
XM_005270582.3 520 Intron XP_005270639.1
XM_011540897.2 520 Nonsense Mutation CAA,TAA Q149* XP_011539199.1

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