Product Details

SNP ID
rs201649817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:233477438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGGAGAGAGAAGTTTCCGGGGCT[C/T]GGGGCCGGGCAGGCGTCTCTGCACT
Phenotype
MIM: 601826 MIM: 610570
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DGKD PubMed Links

Gene Details

Gene
DGKD
Gene Name
diacylglycerol kinase delta
There are no transcripts associated with this gene.

Gene
USP40
Gene Name
ubiquitin specific peptidase 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018218.2 3790 Missense Mutation CAA,CGA Q1233R NP_060688.1
XM_006712612.3 3790 Missense Mutation CAA,CGA Q1234R XP_006712675.1
XM_011511396.2 3790 Missense Mutation CAA,CGA Q1238R XP_011509698.1
XM_011511397.2 3790 Missense Mutation CAA,CGA Q1226R XP_011509699.1
XM_011511398.2 3790 Intron XP_011509700.1
XM_011511399.2 3790 Missense Mutation CAA,CGA Q1135R XP_011509701.1
XM_011511400.2 3790 Missense Mutation CAA,CGA Q1098R XP_011509702.1
XM_011511401.2 3790 Intron XP_011509703.1
XM_017004426.1 3790 Missense Mutation CAA,CGA Q1222R XP_016859915.1
XM_017004427.1 3790 Missense Mutation CAA,CGA Q881R XP_016859916.1
XM_017004428.1 3790 Missense Mutation CAA,CGA Q720R XP_016859917.1

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