Product Details

SNP ID
rs190379872
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:79158733 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTTGGAGCCTTTGGGACAGCGG[A/T]TCCGTGCAGAGGGCAGTTCCCTCTG
Phenotype
MIM: 167805
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
REG3A PubMed Links

Gene Details

Gene
REG3A
Gene Name
regenerating family member 3 alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002580.2 174 Missense Mutation AAC,ATC N38I NP_002571.1
NM_138937.2 174 Missense Mutation AAC,ATC N38I NP_620354.1
NM_138938.2 174 Intron NP_620355.1

View Full Product Details