Product Details

SNP ID
rs1046921
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:109106597 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGTTGATCCAGTGTCTGATGTTA[G/C]CCAGGAAAGTGATGGGTGGAGTGGG
Phenotype
MIM: 611298
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
C1orf194 PubMed Links

Gene Details

Gene
C1orf194
Gene Name
chromosome 1 open reading frame 194
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122961.1 867 Missense Mutation GCT,GGT A114G NP_001116433.1
XM_005270448.3 867 Missense Mutation GCT,GGT A75G XP_005270505.1
XM_006710342.3 867 Missense Mutation GCT,GGT A225G XP_006710405.1
XM_006710343.3 867 Missense Mutation GCT,GGT A186G XP_006710406.1
XM_011540647.2 867 Missense Mutation GCT,GGT A235G XP_011538949.1
XM_011540648.1 867 Silent Mutation GGC,GGG G196G XP_011538950.1
Gene
KIAA1324
Gene Name
KIAA1324
There are no transcripts associated with this gene.

Gene
SCARNA2
Gene Name
small Cajal body-specific RNA 2
There are no transcripts associated with this gene.

Gene
TMEM167B
Gene Name
transmembrane protein 167B
There are no transcripts associated with this gene.

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