Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
74 submissions
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Phenotype: |
MIM: 608616 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf145 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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C1orf145 - chromosome 1 open reading frame 145 | ||||||
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There are no transcripts associated with this gene. |
OBSCN - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098623.2 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | NP_001092093.2 | |
NM_001271223.2 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | NP_001258152.2 | |
NM_052843.3 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | NP_443075.3 | |
XM_005273287.4 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_005273344.1 | |
XM_005273291.4 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_005273348.1 | |
XM_005273298.4 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_005273355.1 | |
XM_005273307.4 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_005273364.1 | |
XM_006711822.3 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_006711885.1 | |
XM_006711823.3 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_006711886.1 | |
XM_006711827.3 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_006711890.1 | |
XM_006711829.3 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_006711892.1 | |
XM_011544297.2 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_011542599.1 | |
XM_011544299.2 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_011542601.1 | |
XM_017002443.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857932.1 | |
XM_017002444.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857933.1 | |
XM_017002445.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857934.1 | |
XM_017002446.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857935.1 | |
XM_017002447.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857936.1 | |
XM_017002448.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857937.1 | |
XM_017002449.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857938.1 | |
XM_017002450.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857939.1 | |
XM_017002451.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857940.1 | |
XM_017002452.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857941.1 | |
XM_017002453.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857942.1 | |
XM_017002454.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857943.1 | |
XM_017002455.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857944.1 | |
XM_017002456.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857945.1 | |
XM_017002457.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857946.1 | |
XM_017002458.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857947.1 | |
XM_017002459.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857948.1 | |
XM_017002460.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857949.1 | |
XM_017002461.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857950.1 | |
XM_017002462.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857951.1 | |
XM_017002463.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857952.1 | |
XM_017002464.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857953.1 | |
XM_017002465.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857954.1 | |
XM_017002466.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857955.1 | |
XM_017002467.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857956.1 | |
XM_017002468.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857957.1 | |
XM_017002469.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857958.1 | |
XM_017002470.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857959.1 | |
XM_017002471.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857960.1 | |
XM_017002472.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857961.1 | |
XM_017002473.1 | 1658 | Missense Mutation | CAG,CGG | Q,R 502 | XP_016857962.1 |
Set Membership: |
HapMap JSNP |