Product Details

SNP ID
rs182402913
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75147576 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACCTTCAGATCTAAGAAGTCTC[C/T]GGAGCTTGCTTCAGAGGAGTTCCTT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HN1 PubMed Links

Gene Details

Gene
HN1
Gene Name
hematological and neurological expressed 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002032.2 563 Missense Mutation AGA,GGA R93G NP_001002032.1
NM_001002033.2 563 Missense Mutation AGA,GGA R47G NP_001002033.1
NM_001288609.1 563 Missense Mutation AGA,GGA R47G NP_001275538.1
NM_001288610.1 563 Missense Mutation AGA,GGA R47G NP_001275539.1
NM_001288611.1 563 Missense Mutation AGA,GGA R93G NP_001275540.1
NM_016185.3 563 Missense Mutation AGA,GGA R93G NP_057269.1

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