Product Details

SNP ID
rs137905170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119111067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCTGCAGAGAGGTGAAGAACAA[G/T]TGGAGCTCTCCACAATTGAGGAACT
Phenotype
MIM: 191350
Polymorphism
G/T, 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 1267 Missense Mutation GTG,TTG V233L NP_001277403.1
NM_014807.4 1267 Missense Mutation GTG,TTG V233L NP_055622.3
XM_006718948.3 1267 Missense Mutation GTG,TTG V196L XP_006719011.1
XM_011543076.2 1267 Missense Mutation GTG,TTG V84L XP_011541378.1
XM_017018625.1 1267 Missense Mutation GTG,TTG V196L XP_016874114.1
XM_017018626.1 1267 Missense Mutation GTG,TTG V233L XP_016874115.1
XM_017018627.1 1267 Missense Mutation GTG,TTG V233L XP_016874116.1
XM_017018628.1 1267 Missense Mutation GTG,TTG V84L XP_016874117.1
Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

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