Product Details

SNP ID
rs147389349
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119111053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTTCCCTTCTTCTCTCTGCAGA[A/G]AGGTGAAGAACAAGTGGAGCTCTCC
Phenotype
MIM: 191350
Polymorphism
A/G, 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 1253 Missense Mutation AAA,AGA K228R NP_001277403.1
NM_014807.4 1253 Missense Mutation AAA,AGA K228R NP_055622.3
XM_006718948.3 1253 Missense Mutation AAA,AGA K191R XP_006719011.1
XM_011543076.2 1253 Missense Mutation AAA,AGA K79R XP_011541378.1
XM_017018625.1 1253 Missense Mutation AAA,AGA K191R XP_016874114.1
XM_017018626.1 1253 Missense Mutation AAA,AGA K228R XP_016874115.1
XM_017018627.1 1253 Missense Mutation AAA,AGA K228R XP_016874116.1
XM_017018628.1 1253 Missense Mutation AAA,AGA K79R XP_016874117.1
Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

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