Product Details

SNP ID
rs200632480
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:85021091 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACCTTAATTGTTTCGTATGTATC[A/T]GTGATCAGTGCAATGAAAAGACTTA
Phenotype
MIM: 607400
Polymorphism
A/T, Transversion 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 1411 Silent Mutation ACA,ACT T446T NP_001240622.1
NM_018298.10 1411 Silent Mutation ACA,ACT T502T NP_060768.8
XM_005271003.1 1411 Silent Mutation ACA,ACT T502T XP_005271060.1
XM_006710750.1 1411 Silent Mutation ACA,ACT T502T XP_006710813.1
XM_011541739.2 1411 Silent Mutation ACA,ACT T515T XP_011540041.2
XM_011541740.2 1411 Silent Mutation ACA,ACT T470T XP_011540042.1
XM_011541741.2 1411 Intron XP_011540043.1
XM_011541742.1 1411 Silent Mutation ACA,ACT T347T XP_011540044.1

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