Product Details

SNP ID
rs2278570
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:85018980 on Build GRCh38
Set Membership
JSNP
Context Sequence [VIC/FAM]
ACATTAAATATTGCTTTTAAAAATA[C/T]AAACAGTTATTGGTGAATTATAGGT
Phenotype
MIM: 607400
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MCOLN3 PubMed Links

Gene Details

Gene
MCOLN3
Gene Name
mucolipin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253693.1 1710 UTR 3 NP_001240622.1
NM_018298.10 1710 UTR 3 NP_060768.8
XM_005271003.1 1710 UTR 3 XP_005271060.1
XM_006710750.1 1710 UTR 3 XP_006710813.1
XM_011541739.2 1710 UTR 3 XP_011540041.2
XM_011541740.2 1710 UTR 3 XP_011540042.1
XM_011541741.2 1710 Intron XP_011540043.1
XM_011541742.1 1710 UTR 3 XP_011540044.1

View Full Product Details