Product Details

SNP ID
rs76626460
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:59666814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCAATTGATATTGTAGTGTGAAC[A/G]TGACCCTTCTGTCAACTGCACTTTC
Phenotype
MIM: 614567
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DIAPH3 PubMed Links

Gene Details

Gene
DIAPH3
Gene Name
diaphanous related formin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042517.1 3571 Missense Mutation CGT,TGT R1118C NP_001035982.1
NM_001258366.1 3571 Missense Mutation CGT,TGT R1107C NP_001245295.1
NM_001258367.1 3571 Missense Mutation CGT,TGT R1072C NP_001245296.1
NM_001258368.1 3571 Missense Mutation CGT,TGT R1048C NP_001245297.1
NM_001258369.1 3571 Intron NP_001245298.1
NM_001258370.1 3571 Intron NP_001245299.1
NM_030932.3 3571 Intron NP_112194.2
XM_006719876.1 3571 Missense Mutation CGT,TGT R855C XP_006719939.1
XM_011535258.2 3571 Intron XP_011533560.1
XM_011535263.2 3571 Intron XP_011533565.1
XM_011535265.2 3571 Intron XP_011533567.1
XM_017020789.1 3571 Intron XP_016876278.1

View Full Product Details