Product Details

SNP ID
rs201774483
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119110672 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACCACGTCACTCTGACACTGCCA[A/C]CAACACAGGTAGAAGGGGATGTGGG
Phenotype
MIM: 191350
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C2CD2L PubMed Links

Gene Details

Gene
C2CD2L
Gene Name
C2CD2 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290474.1 1243 Missense Mutation ACA,CCA T188P NP_001277403.1
NM_014807.4 1243 Missense Mutation ACA,CCA T188P NP_055622.3
XM_006718948.3 1243 Missense Mutation ACA,CCA T188P XP_006719011.1
XM_011543076.2 1243 Missense Mutation ACA,CCA T39P XP_011541378.1
XM_017018625.1 1243 Missense Mutation ACA,CCA T188P XP_016874114.1
XM_017018626.1 1243 Missense Mutation ACA,CCA T188P XP_016874115.1
XM_017018627.1 1243 Missense Mutation ACA,CCA T188P XP_016874116.1
XM_017018628.1 1243 Missense Mutation ACA,CCA T39P XP_016874117.1
Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

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