Product Details

SNP ID
rs4248671
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129143621 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TACAGTTTAGAGAATAAAGCACATA[G/A]AATATTAATGAATTTCTATAATGTA
Phenotype
MIM: 612764
Polymorphism
G/A, Transition Substitution
Allele Nomenclature
Literature Links
ISY1 PubMed Links

Gene Details

Gene
ISY1
Gene Name
ISY1 splicing factor homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199469.1 Intron NP_001186398.1
NM_020701.3 Intron NP_065752.1
Gene
ISY1-RAB43
Gene Name
ISY1-RAB43 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204890.1 Intron NP_001191819.1

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