Product Details

SNP ID
rs61750431
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92491332 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATAAGAGCTTCCAAAGTAGAGCCG[G/T]TACATATTGAATTTTGATTCATCTG
Phenotype
MIM: 614518 MIM: 602136
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GATAD1 PubMed Links

Gene Details

Gene
GATAD1
Gene Name
GATA zinc finger domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021167.4 3509 Intron NP_066990.3
Gene
PEX1
Gene Name
peroxisomal biogenesis factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000466.2 3509 Nonsense Mutation TAA,TAC *1126Y NP_000457.1
NM_001282677.1 3509 Nonsense Mutation TAA,TAC *1069Y NP_001269606.1
NM_001282678.1 3509 Nonsense Mutation TAA,TAC *918Y NP_001269607.1
XM_017012319.1 3509 Nonsense Mutation TAA,TAC *543Y XP_016867808.1

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