Product Details

SNP ID
rs113542762
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241654571 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGGAGGTGGACACAAAGGAAGAG[A/G]CAGCCAGACAGCTACTTCAGCGTCC
Phenotype
MIM: 611338
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ATG4B PubMed Links

Gene Details

Gene
ATG4B
Gene Name
autophagy related 4B cysteine peptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013325.4 511 Silent Mutation AGA,AGG R103R NP_037457.3
NM_178326.2 511 Silent Mutation AGA,AGG R103R NP_847896.1
XM_005246992.3 511 Silent Mutation AGA,AGG R103R XP_005247049.2
XM_005246993.2 511 Silent Mutation AGA,AGG R103R XP_005247050.2
XM_005246995.3 511 Silent Mutation AGA,AGG R29R XP_005247052.1
XM_005246996.2 511 Silent Mutation AGA,AGG R29R XP_005247053.1
XM_017003637.1 511 Silent Mutation AGA,AGG R167R XP_016859126.1
XM_017003638.1 511 Silent Mutation AGA,AGG R167R XP_016859127.1
XM_017003639.1 511 Silent Mutation AGA,AGG R29R XP_016859128.1
XM_017003640.1 511 Silent Mutation AGA,AGG R29R XP_016859129.1

View Full Product Details