Product Details

SNP ID
rs148628887
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:85019163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAATAAAGATACTGGAGGGTCA[C/T]CTTCTAATCTGTATTTTCCAGAGTT
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 1527 Missense Mutation GAT,GGT D485G NP_001240622.1
NM_018298.10 1527 Missense Mutation GAT,GGT D541G NP_060768.8
XM_005271003.1 1527 Missense Mutation GAT,GGT D541G XP_005271060.1
XM_006710750.1 1527 Missense Mutation GAT,GGT D541G XP_006710813.1
XM_011541739.2 1527 Missense Mutation GAT,GGT D554G XP_011540041.2
XM_011541740.2 1527 Missense Mutation GAT,GGT D509G XP_011540042.1
XM_011541741.2 1527 Intron XP_011540043.1
XM_011541742.1 1527 Missense Mutation GAT,GGT D386G XP_011540044.1

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