Product Details

SNP ID
rs200767565
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16501000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTACTCCTGAAAGAGAACCCTGTG[A/C]TCGGGAGTGGACCCAGGCTTGCCTC
Phenotype
MIM: 611414
Polymorphism
A/C, Transversion 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_001288834.1 364 Missense Mutation ATC,CTC I70L NP_001275763.1
NM_032207.3 364 Missense Mutation ATC,CTC I70L NP_115583.1
XM_006722920.3 364 Missense Mutation ATC,CTC I70L XP_006722983.1
XM_011528354.2 364 Missense Mutation ATC,CTC I70L XP_011526656.1
XM_017027350.1 364 Missense Mutation ATC,CTC I70L XP_016882839.1
Gene
CALR3
Gene Name
calreticulin 3
There are no transcripts associated with this gene.

View Full Product Details