Product Details

SNP ID
rs140347847
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:49483593 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGAATGTTCTTACCTTAAAGTT[C/T]ACTTTGCCTTTGTTTGTATCATTGG
Phenotype
MIM: 603661
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
C18orf32 PubMed Links

Gene Details

Gene
C18orf32
Gene Name
chromosome 18 open reading frame 32
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035005.3 699 Silent Mutation GTA,GTG V52V NP_001030177.1
NM_001199346.1 699 Silent Mutation GTA,GTG V52V NP_001186275.1
Gene
MIR1539
Gene Name
microRNA 1539
There are no transcripts associated with this gene.

Gene
RPL17
Gene Name
ribosomal protein L17
There are no transcripts associated with this gene.

Gene
RPL17-C18orf32
Gene Name
RPL17-C18orf32 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199355.1 699 Silent Mutation TAA,TGA *229* NP_001186284.1
NM_001199356.1 699 Silent Mutation TAA,TGA *191* NP_001186285.1
Gene
SNORD58A
Gene Name
small nucleolar RNA, C/D box 58A
There are no transcripts associated with this gene.

Gene
SNORD58B
Gene Name
small nucleolar RNA, C/D box 58B
There are no transcripts associated with this gene.

Gene
SNORD58C
Gene Name
small nucleolar RNA, C/D box 58C
There are no transcripts associated with this gene.

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