Product Details

SNP ID
rs142730336
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119110640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAGTCCCCCGCTGCCGTCTCCA[C/T]GGAGACCTACCACGTCACTCTGACA
Phenotype
MIM: 191350
Polymorphism
C/T, Transition 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 1211 Missense Mutation ACG,ATG T177M NP_001277403.1
NM_014807.4 1211 Missense Mutation ACG,ATG T177M NP_055622.3
XM_006718948.3 1211 Missense Mutation ACG,ATG T177M XP_006719011.1
XM_011543076.2 1211 Missense Mutation ACG,ATG T28M XP_011541378.1
XM_017018625.1 1211 Missense Mutation ACG,ATG T177M XP_016874114.1
XM_017018626.1 1211 Missense Mutation ACG,ATG T177M XP_016874115.1
XM_017018627.1 1211 Missense Mutation ACG,ATG T177M XP_016874116.1
XM_017018628.1 1211 Missense Mutation ACG,ATG T28M XP_016874117.1
Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

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