Product Details

SNP ID
rs4275228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123042353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCGGACGACGTGACCAGAAGTCC[C/T]GCCGCTTAAAGGGTAAGCGCCGATT
Phenotype
MIM: 608813
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DERL1 PubMed Links

Gene Details

Gene
DERL1
Gene Name
derlin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134671.2 393 UTR 5 NP_001128143.1
NM_024295.5 393 UTR 5 NP_077271.1
XM_006716657.1 393 Intron XP_006716720.1
XM_011517299.1 393 Intron XP_011515601.1
Gene
TBC1D31
Gene Name
TBC1 domain family member 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145088.1 393 Intron NP_001138560.1
NM_145647.3 393 Intron NP_663622.2
XM_005251102.1 393 Intron XP_005251159.1
XM_005251103.1 393 Intron XP_005251160.1
XM_005251104.1 393 Intron XP_005251161.1
XM_011517378.2 393 Intron XP_011515680.1
XM_011517379.2 393 Intron XP_011515681.1
XM_017013983.1 393 Intron XP_016869472.1
XM_017013984.1 393 UTR 5 XP_016869473.1
XM_017013985.1 393 Intron XP_016869474.1
XM_017013986.1 393 Intron XP_016869475.1
XM_017013987.1 393 Intron XP_016869476.1
XM_017013988.1 393 Intron XP_016869477.1
XM_017013989.1 393 Intron XP_016869478.1
XM_017013990.1 393 Intron XP_016869479.1

View Full Product Details