Product Details
- SNP ID
-
rs143448469
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241653596 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCTTTGCCCAAGCCCTGGTGTGCC[A/G]GCACCTAGGCCGAGGTGAGTCACAG
- 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 |
471 |
Missense Mutation |
CAG,CGG |
Q90R |
NP_037457.3 |
| NM_178326.2 |
471 |
Missense Mutation |
CAG,CGG |
Q90R |
NP_847896.1 |
| XM_005246992.3 |
471 |
Missense Mutation |
CAG,CGG |
Q90R |
XP_005247049.2 |
| XM_005246993.2 |
471 |
Missense Mutation |
CAG,CGG |
Q90R |
XP_005247050.2 |
| XM_005246995.3 |
471 |
Missense Mutation |
CAG,CGG |
Q16R |
XP_005247052.1 |
| XM_005246996.2 |
471 |
Missense Mutation |
CAG,CGG |
Q16R |
XP_005247053.1 |
| XM_017003637.1 |
471 |
Missense Mutation |
CAG,CGG |
Q154R |
XP_016859126.1 |
| XM_017003638.1 |
471 |
Missense Mutation |
CAG,CGG |
Q154R |
XP_016859127.1 |
| XM_017003639.1 |
471 |
Missense Mutation |
CAG,CGG |
Q16R |
XP_016859128.1 |
| XM_017003640.1 |
471 |
Missense Mutation |
CAG,CGG |
Q16R |
XP_016859129.1 |
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