Product Details

SNP ID
rs34552628
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:56495212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTTCTTTTTACCTTTACATCC[A/T]TCATGAACATTTCCTTCCTCACTTT
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GCNT7 PubMed Links

Gene Details

Gene
GCNT7
Gene Name
glucosaminyl (N-acetyl) transferase family member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080615.1 1762 Missense Mutation GAA,GAT E352D NP_542182.1
Gene
RTFDC1
Gene Name
replication termination factor 2 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001283035.1 1762 Intron NP_001269964.1
NM_001283036.1 1762 Intron NP_001269965.1
NM_001283037.1 1762 Intron NP_001269966.1
NM_016407.4 1762 Intron NP_057491.2
XM_017027872.1 1762 Intron XP_016883361.1

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