Product Details

SNP ID
rs139555294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:108160629 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGCCAGGCATTCCAGGCATCCC[A/G]AAGGGGCCTTGCTGCCCTGGAGCTC
Phenotype
MIM: 300663 MIM: 303631
Polymorphism
A/G, 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 4422 Silent Mutation TTC,TTT F1470F NP_001274687.1
NM_001287759.1 4422 Silent Mutation TTC,TTT F1429F NP_001274688.1
NM_001287760.1 4422 Silent Mutation TTC,TTT F1396F NP_001274689.1
NM_001847.3 4422 Silent Mutation TTC,TTT F1454F NP_001838.2
NM_033641.3 4422 Silent Mutation TTC,TTT F1453F NP_378667.1
XM_006724617.3 4422 Silent Mutation TTC,TTT F1471F XP_006724680.1
XM_011530852.2 4422 Silent Mutation TTC,TTT F1447F XP_011529154.1
XM_011530853.2 4422 Silent Mutation TTC,TTT F1443F XP_011529155.1
XM_011530854.2 4422 Intron XP_011529156.1

View Full Product Details