Product Details

SNP ID
rs141117950
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:84929626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGATACTCTTCTTTGCTACTGCA[G/T]TCCTTCAGGAATTCCTGCAAATCCG
Phenotype
MIM: 607399
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MCOLN2 PubMed Links

Gene Details

Gene
MCOLN2
Gene Name
mucolipin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153259.3 1680 Missense Mutation GAA,GAC E532D NP_694991.2
XM_005270719.3 1680 Missense Mutation GAA,GAC E504D XP_005270776.1
XM_006710552.2 1680 Missense Mutation GAA,GAC E504D XP_006710615.1
XM_011541187.2 1680 Missense Mutation GAA,GAC E504D XP_011539489.1
XM_011541188.2 1680 Missense Mutation GAA,GAC E504D XP_011539490.1
XM_017000923.1 1680 Intron XP_016856412.1

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