Product Details

SNP ID
rs147464774
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241678495 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTTCATGAGCTGGTGGAAACAC[C/T]GGAGCGCCCGCTCCTGGAAAGCCCC
Phenotype
MIM: 611338 MIM: 188345 MIM: 608525
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATG4B PubMed Links

Gene Details

Gene
ATG4B
Gene Name
autophagy related 4B cysteine peptidase
There are no transcripts associated with this gene.

Gene
DTYMK
Gene Name
deoxythymidylate kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165031.1 507 Missense Mutation CAG,CGG Q138R NP_001158503.1
NM_001320902.1 507 Missense Mutation CAG,CGG Q119R NP_001307831.1
NM_001320903.1 507 Missense Mutation AGT,GGT S108G NP_001307832.1
NM_001320904.1 507 Missense Mutation CAG,CGG Q143R NP_001307833.1
NM_001320905.1 507 Missense Mutation CAG,CGG Q201R NP_001307834.1
NM_012145.3 507 Missense Mutation CAG,CGG Q162R NP_036277.2
Gene
ING5
Gene Name
inhibitor of growth family member 5
There are no transcripts associated with this gene.

View Full Product Details