Product Details

SNP ID
rs201778068
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:108650285 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTTCCTCCATTTTTCCGGAAGA[C/T]TCCTATCTGGGTACAGTATCCAACA
Phenotype
MIM: 612178
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HENMT1 PubMed Links

Gene Details

Gene
HENMT1
Gene Name
HEN1 methyltransferase homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001102592.1 1103 Missense Mutation ATC,GTC I228V NP_001096062.1
NM_144584.2 1103 Missense Mutation ATC,GTC I228V NP_653185.2
XM_005270411.1 1103 Missense Mutation ATC,GTC I236V XP_005270468.1
XM_017000179.1 1103 Missense Mutation ATC,GTC I72V XP_016855668.1

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