Product Details

SNP ID
rs80105180
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5916175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTAATGTAGTTCCCAAATACAT[C/T]TCATATGACAATCTTACATAAATGT
Phenotype
MIM: 114212 MIM: 603327
Polymorphism
C/T, 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 2111 UTR 3 NP_004049.2
NM_080590.3 2111 UTR 3 NP_542157.2
Gene
RANBP3
Gene Name
RAN binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300865.1 2111 UTR 3 NP_001287794.1
NM_003624.2 2111 UTR 3 NP_003615.2
NM_007320.2 2111 UTR 3 NP_015559.2
NM_007322.2 2111 UTR 3 NP_015561.1
XM_006722928.1 2111 UTR 3 XP_006722991.1
XM_006722929.1 2111 UTR 3 XP_006722992.1
XM_011528391.1 2111 UTR 3 XP_011526693.1
XM_011528392.1 2111 UTR 3 XP_011526694.1
XM_011528393.1 2111 UTR 3 XP_011526695.1
XM_011528394.1 2111 UTR 3 XP_011526696.1
XM_017027405.1 2111 UTR 3 XP_016882894.1
XM_017027406.1 2111 UTR 3 XP_016882895.1
Gene
VMAC
Gene Name
vimentin-type intermediate filament associated coiled-coil protein
There are no transcripts associated with this gene.

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