Product Details

SNP ID
rs61572689
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:30688732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGTAGCTGGGCCCGGAGGTAGC[A/G]GAGGTCTTGCTGATCAAGCCCGTGA
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 1070 Missense Mutation CGC,TGC R246C NP_001257636.1
NM_001270708.1 1070 UTR 3 NP_001257637.1
NM_001270709.1 1070 Missense Mutation CGC,TGC R181C NP_001257638.1
NM_001270710.1 1070 UTR 3 NP_001257639.1
NM_007243.2 1070 Missense Mutation CGC,TGC R240C NP_009174.1
XM_017010224.1 1070 Missense Mutation CGC,TGC R161C XP_016865713.1
XM_017010225.1 1070 Missense Mutation CGC,TGC R161C XP_016865714.1
Gene
PPP1R18
Gene Name
protein phosphatase 1 regulatory subunit 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134870.1 1070 Intron NP_001128342.1
NM_133471.3 1070 Intron NP_597728.1

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