Product Details

SNP ID
rs11555619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42785290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTTCTAAGGCTTAGGTTTTGCC[T/C]AGAATTCCCGATACATGGAATAGCC
Phenotype
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
HIGD1A PubMed Links

Gene Details

Gene
HIGD1A
Gene Name
HIG1 hypoxia inducible domain family member 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099668.1 385 Nonsense Mutation TAG,TGG *102W NP_001093138.1
NM_001099669.1 385 Nonsense Mutation TAG,TGG *88W NP_001093139.1
NM_014056.3 385 Nonsense Mutation TAG,TGG *88W NP_054775.2

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