Product Details

SNP ID
rs201417622
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:108159623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTCTGGCTGACGGGCATCATGG[C/G]GATAGGGGCGGTAGTGGAGAGCCAG
Phenotype
MIM: 300663 MIM: 303631
Polymorphism
C/G, 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 4714 Missense Mutation CCC,GCC P1568A NP_001274687.1
NM_001287759.1 4714 Missense Mutation CCC,GCC P1527A NP_001274688.1
NM_001287760.1 4714 Missense Mutation CCC,GCC P1494A NP_001274689.1
NM_001847.3 4714 Missense Mutation CCC,GCC P1552A NP_001838.2
NM_033641.3 4714 Missense Mutation CCC,GCC P1551A NP_378667.1
XM_006724617.3 4714 Missense Mutation CCC,GCC P1569A XP_006724680.1
XM_011530852.2 4714 Missense Mutation CCC,GCC P1545A XP_011529154.1
XM_011530853.2 4714 Missense Mutation CCC,GCC P1541A XP_011529155.1
XM_011530854.2 4714 Intron XP_011529156.1

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