Product Details
- SNP ID
-
rs183601024
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:5917851 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCGTCATCGTCGCTGTCGTCCTCCT[C/T]GTTGGATGGGGCTGCCCCAGGCTCA
- Phenotype
-
MIM: 114212
MIM: 603327
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CAPS
PubMed Links
Gene Details
- Gene
- CAPS
- Gene Name
- calcyphosine
There are no transcripts associated with this gene.
- Gene
- RANBP3
- Gene Name
- RAN binding protein 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001300865.1 |
1626 |
Missense Mutation |
AAG,GAG |
K462E |
NP_001287794.1 |
| NM_003624.2 |
1626 |
Missense Mutation |
AAG,GAG |
K530E |
NP_003615.2 |
| NM_007320.2 |
1626 |
Missense Mutation |
AAG,GAG |
K467E |
NP_015559.2 |
| NM_007322.2 |
1626 |
Missense Mutation |
AAG,GAG |
K535E |
NP_015561.1 |
| XM_006722928.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_006722991.1 |
| XM_006722929.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_006722992.1 |
| XM_011528391.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_011526693.1 |
| XM_011528392.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_011526694.1 |
| XM_011528393.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_011526695.1 |
| XM_011528394.1 |
1626 |
Missense Mutation |
AAG,GAG |
K254E |
XP_011526696.1 |
| XM_017027405.1 |
1626 |
Missense Mutation |
AAG,GAG |
K407E |
XP_016882894.1 |
| XM_017027406.1 |
1626 |
Missense Mutation |
AAG,GAG |
K402E |
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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