Product Details

SNP ID
rs200336566
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16501057 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGCCCACCACTGCCTCCAGGATC[C/T]GAGCCAATGCCGCACTCATGAAGCT
Phenotype
MIM: 611414
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C19orf44 PubMed Links

Gene Details

Gene
C19orf44
Gene Name
chromosome 19 open reading frame 44
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288834.1 421 Nonsense Mutation CGA,TGA R89* NP_001275763.1
NM_032207.3 421 Nonsense Mutation CGA,TGA R89* NP_115583.1
XM_006722920.3 421 Nonsense Mutation CGA,TGA R89* XP_006722983.1
XM_011528354.2 421 Nonsense Mutation CGA,TGA R89* XP_011526656.1
XM_017027350.1 421 Nonsense Mutation CGA,TGA R89* XP_016882839.1
Gene
CALR3
Gene Name
calreticulin 3
There are no transcripts associated with this gene.

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