Product Details

SNP ID
rs192002830
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:215947064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACTTCCATCTGTTTCTTACTTCC[C/G]TTCGAACCTGCCGCAGGGTATGGAT
Phenotype
MIM: 609207
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MREG PubMed Links

Gene Details

Gene
MREG
Gene Name
melanoregulin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018000.2 601 Missense Mutation ACG,AGG T102R NP_060470.2
XM_011511468.2 601 Missense Mutation ACG,AGG T152R XP_011509770.1
XM_017004475.1 601 Intron XP_016859964.1

View Full Product Details