Product Details

SNP ID
rs199601560
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16520466 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGAGTTGGAGCGGGAGGAAGAA[C/T]GCCCTCGACTCTTGGATCTGCTCCG
Phenotype
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 2317 Intron NP_001275763.1
NM_032207.3 2317 UTR 3 NP_115583.1
XM_006722920.3 2317 UTR 3 XP_006722983.1
XM_011528354.2 2317 Intron XP_011526656.1
XM_017027350.1 2317 Intron XP_016882839.1
Gene
CHERP
Gene Name
calcium homeostasis endoplasmic reticulum protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006387.5 2317 Missense Mutation CAT,CGT H748R NP_006378.3

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