Product Details

SNP ID
rs11541732
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45408409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGCCCCAAGCCCAGGTCCCCTCT[A/G]TCTTCTCTTTCGACTTTGCAGCTGT
Phenotype
MIM: 611453 MIM: 610272
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DBNDD2 PubMed Links

Gene Details

Gene
DBNDD2
Gene Name
dysbindin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048221.2 421 Intron NP_001041686.1
NM_001048222.2 421 Intron NP_001041687.1
NM_001048223.2 421 Intron NP_001041688.1
NM_001048224.2 421 Intron NP_001041689.1
NM_001048225.2 421 Missense Mutation TAT,TGT Y83C NP_001041690.2
NM_001048226.2 421 Missense Mutation TAT,TGT Y83C NP_001041691.2
NM_001197139.1 421 Intron NP_001184068.1
NM_001197140.1 421 Intron NP_001184069.1
NM_018478.3 421 Missense Mutation TAT,TGT Y79C NP_060948.3
Gene
PIGT
Gene Name
phosphatidylinositol glycan anchor biosynthesis class T
There are no transcripts associated with this gene.

Gene
SYS1-DBNDD2
Gene Name
SYS1-DBNDD2 readthrough (NMD candidate)
There are no transcripts associated with this gene.

View Full Product Details