Product Details

SNP ID
rs145082503
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:108160640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCCAGGCATCCCGAAGGGGCCTT[G/T]CTGCCCTGGAGCTCCTGAGAGAGAC
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 4411 Missense Mutation AAA,CAA K1467Q NP_001274687.1
NM_001287759.1 4411 Missense Mutation AAA,CAA K1426Q NP_001274688.1
NM_001287760.1 4411 Missense Mutation AAA,CAA K1393Q NP_001274689.1
NM_001847.3 4411 Missense Mutation AAA,CAA K1451Q NP_001838.2
NM_033641.3 4411 Missense Mutation AAA,CAA K1450Q NP_378667.1
XM_006724617.3 4411 Missense Mutation AAA,CAA K1468Q XP_006724680.1
XM_011530852.2 4411 Missense Mutation AAA,CAA K1444Q XP_011529154.1
XM_011530853.2 4411 Missense Mutation AAA,CAA K1440Q XP_011529155.1
XM_011530854.2 4411 Intron XP_011529156.1

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