Product Details

SNP ID
rs1133966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7520387 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTATCGCTGTCAGCTCTGCGGGA[A/G]GGCCTTCGGCCAGGCCTCCAGCCTC
Phenotype
MIM: 605248
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MCOLN1 PubMed Links

Gene Details

Gene
MCOLN1
Gene Name
mucolipin 1
There are no transcripts associated with this gene.

Gene
ZNF358
Gene Name
zinc finger protein 358
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018083.4 1206 Missense Mutation AAG,AGG K382R NP_060553.4
XM_005272460.3 1206 Missense Mutation AAG,AGG K382R XP_005272517.1
XM_011527695.1 1206 Missense Mutation AAG,AGG K382R XP_011525997.1
XM_017026296.1 1206 Missense Mutation AAG,AGG K401R XP_016881785.1

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