Product Details

SNP ID
rs143232283
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:30689443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTGGGTATGGGCTCCCAGTACC[A/G]CATCACCAGCTGTGGAAGGATAAGG
Phenotype
MIM: 610990
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NRM PubMed Links

Gene Details

Gene
NRM
Gene Name
nurim (nuclear envelope membrane protein)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270707.1 692 Missense Mutation CGG,TGG R120W NP_001257636.1
NM_001270708.1 692 Intron NP_001257637.1
NM_001270709.1 692 Intron NP_001257638.1
NM_001270710.1 692 Intron NP_001257639.1
NM_007243.2 692 Missense Mutation CGG,TGG R114W NP_009174.1
XM_017010224.1 692 Missense Mutation CGG,TGG R35W XP_016865713.1
XM_017010225.1 692 Missense Mutation CGG,TGG R35W XP_016865714.1
Gene
PPP1R18
Gene Name
protein phosphatase 1 regulatory subunit 18
There are no transcripts associated with this gene.

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