Product Details

SNP ID
rs138922331
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:108159624 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCTGGCTGACGGGCATCATGGG[G/T]ATAGGGGCGGTAGTGGAGAGCCAGT
Phenotype
MIM: 300663 MIM: 303631
Polymorphism
G/T, Transversion 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 4713 Silent Mutation NP_001274687.1
NM_001287759.1 4713 Silent Mutation NP_001274688.1
NM_001287760.1 4713 Silent Mutation NP_001274689.1
NM_001847.3 4713 Silent Mutation NP_001838.2
NM_033641.3 4713 Silent Mutation NP_378667.1
XM_006724617.3 4713 Silent Mutation XP_006724680.1
XM_011530852.2 4713 Silent Mutation XP_011529154.1
XM_011530853.2 4713 Silent Mutation XP_011529155.1
XM_011530854.2 4713 Intron XP_011529156.1

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