Product Details

SNP ID
rs143117009
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5914459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACTCCGGGCACAGTGCCTGTCCC[A/G]CGGGGCCTCGGGCATCCAGGGCCTG
Phenotype
MIM: 114212 MIM: 603327
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CAPS PubMed Links

Gene Details

Gene
CAPS
Gene Name
calcyphosine
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004058.4 741 Missense Mutation CAC,CGC H104R NP_004049.2
NM_080590.3 741 Missense Mutation CAC,CGC H104R NP_542157.2
Gene
RANBP3
Gene Name
RAN binding protein 3
There are no transcripts associated with this gene.

Gene
VMAC
Gene Name
vimentin-type intermediate filament associated coiled-coil protein
There are no transcripts associated with this gene.

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