Product Details

SNP ID
rs200649163
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:108160527 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTAAGCTGTACCCCACCCACAG[C/T]TGGCTCATCCCGATGGGACACGGGG
Phenotype
MIM: 300663 MIM: 303631
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATG4A PubMed Links

Gene Details

Gene
ATG4A
Gene Name
autophagy related 4A cysteine peptidase
There are no transcripts associated with this gene.

Gene
COL4A6
Gene Name
collagen type IV alpha 6 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287758.1 4524 Silent Mutation CAA,CAG Q1504Q NP_001274687.1
NM_001287759.1 4524 Silent Mutation CAA,CAG Q1463Q NP_001274688.1
NM_001287760.1 4524 Silent Mutation CAA,CAG Q1430Q NP_001274689.1
NM_001847.3 4524 Silent Mutation CAA,CAG Q1488Q NP_001838.2
NM_033641.3 4524 Silent Mutation CAA,CAG Q1487Q NP_378667.1
XM_006724617.3 4524 Silent Mutation CAA,CAG Q1505Q XP_006724680.1
XM_011530852.2 4524 Silent Mutation CAA,CAG Q1481Q XP_011529154.1
XM_011530853.2 4524 Silent Mutation CAA,CAG Q1477Q XP_011529155.1
XM_011530854.2 4524 Intron XP_011529156.1

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