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 |
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