Product Details

SNP ID
rs200059929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92489824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCTTGTGAAGCTGTCCTTAACA[A/C]TGGAGGCTGTGAAAACAACTGGTCT
Phenotype
MIM: 614518 MIM: 602136
Polymorphism
A/C, 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 3657 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 3657 Missense Mutation GTG,TTG V1176L NP_000457.1
NM_001282677.1 3657 Missense Mutation GTG,TTG V1119L NP_001269606.1
NM_001282678.1 3657 Missense Mutation GTG,TTG V968L NP_001269607.1
XM_017012319.1 3657 Missense Mutation GTG,TTG V593L XP_016867808.1

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