Product Details

SNP ID
rs150864189
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:151176789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTTGTAAGCCTCACGAATGATC[C/T]TGAAGGCTCGAGCAGTGGCATAGGG
Phenotype
MIM: 608095 MIM: 605834 MIM: 600607
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SCNM1 PubMed Links

Gene Details

Gene
SCNM1
Gene Name
sodium channel modifier 1
There are no transcripts associated with this gene.

Gene
TMOD4
Gene Name
tropomodulin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013353.2 1042 Intron NP_037485.2
XM_011509449.1 1042 Intron XP_011507751.1
XM_017001089.1 1042 Intron XP_016856578.1
XM_017001090.1 1042 Intron XP_016856579.1
Gene
TNFAIP8L2-SCNM1
Gene Name
TNFAIP8L2-SCNM1 readthrough
There are no transcripts associated with this gene.

Gene
VPS72
Gene Name
vacuolar protein sorting 72 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271087.1 1042 Missense Mutation AAG,AGG K328R NP_001258016.1
NM_001271088.1 1042 UTR 3 NP_001258017.1
NM_005997.2 1042 Missense Mutation AAG,AGG K317R NP_005988.1
XM_017002205.1 1042 Missense Mutation AAG,AGG K196R XP_016857694.1

View Full Product Details