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TCGTCATCGTCGCTGTCGTCCTCCT[C/T]GTTGGATGGGGCTGCCCCAGGCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114212 MIM: 603327 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPS PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CAPS - calcyphosine | ||||||
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There are no transcripts associated with this gene. |
RANBP3 - RAN binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300865.1 | 1626 | Missense Mutation | AAG,GAG | K,E 462 | NP_001287794.1 | |
NM_003624.2 | 1626 | Missense Mutation | AAG,GAG | K,E 530 | NP_003615.2 | |
NM_007320.2 | 1626 | Missense Mutation | AAG,GAG | K,E 467 | NP_015559.2 | |
NM_007322.2 | 1626 | Missense Mutation | AAG,GAG | K,E 535 | NP_015561.1 | |
XM_006722928.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_006722991.1 | |
XM_006722929.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_006722992.1 | |
XM_011528391.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_011526693.1 | |
XM_011528392.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_011526694.1 | |
XM_011528393.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_011526695.1 | |
XM_011528394.1 | 1626 | Missense Mutation | AAG,GAG | K,E 254 | XP_011526696.1 | |
XM_017027405.1 | 1626 | Missense Mutation | AAG,GAG | K,E 407 | XP_016882894.1 | |
XM_017027406.1 | 1626 | Missense Mutation | AAG,GAG | K,E 402 | XP_016882895.1 |
VMAC - vimentin-type intermediate filament associated coiled-coil protein | ||||||
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There are no transcripts associated with this gene. |