Product Details

SNP ID
rs2722173
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:104064508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCCCGCCCTCCCCAGGGAGCA[C/G]CCGGTTGAGGCGGGAGCGGTGCATT
Phenotype
MIM: 607926
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GLT8D2 PubMed Links

Gene Details

Gene
GLT8D2
Gene Name
glycosyltransferase 8 domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316967.1 51 Intron NP_001303896.1
NM_031302.4 51 Intron NP_112592.1
XM_011538793.2 51 Intron XP_011537095.1
XM_017019999.1 51 Intron XP_016875488.1
Gene
HCFC2
Gene Name
host cell factor C2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013320.2 51 UTR 5 NP_037452.1
XM_017019241.1 51 UTR 5 XP_016874730.1
XM_017019242.1 51 UTR 5 XP_016874731.1

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