Product Details

SNP ID
rs142005201
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:117368625 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTAGAATACCTTTTGAGAATTT[A/C]CAGGTAACTCAGTAATAACATTCTG
Phenotype
MIM: 605797
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ASZ1 PubMed Links

Gene Details

Gene
ASZ1
Gene Name
ankyrin repeat, SAM and basic leucine zipper domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301821.1 1099 Missense Mutation GGA,GTA G383V NP_001288750.1
NM_001301822.1 1099 Missense Mutation GGA,GTA G175V NP_001288751.1
NM_130768.2 1099 Missense Mutation GGA,GTA G383V NP_570124.1

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