Product Details

SNP ID
rs199992356
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10547015 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGTCCTGGTTCGCCGACCACCCC[C/T]GGGCCCCCTTTGGCCTACACCGGCT
Phenotype
MIM: 611340
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ATG4D PubMed Links

Gene Details

Gene
ATG4D
Gene Name
autophagy related 4D cysteine peptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281504.1 867 Missense Mutation CGG,TGG R161W NP_001268433.1
NM_032885.5 867 Missense Mutation CGG,TGG R224W NP_116274.3
XM_006722927.1 867 Intron XP_006722990.1
Gene
KRI1
Gene Name
KRI1 homolog
There are no transcripts associated with this gene.

Gene
MIR1238
Gene Name
microRNA 1238
There are no transcripts associated with this gene.

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