Product Details

SNP ID
rs143957193
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:119794649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGTACTTGCACAGGAAGTGTTGG[C/T]GCTTGTTGCATTCGTTGCTGCTCCA
Phenotype
MIM: 609846
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
REG4 PubMed Links

Gene Details

Gene
REG4
Gene Name
regenerating family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159352.1 712 Missense Mutation CAC,CGC H149R NP_001152824.1
NM_001159353.1 712 Intron NP_001152825.1
NM_032044.3 712 Missense Mutation CAC,CGC H149R NP_114433.1

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