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GAAGCCGCTTCTCCTCCTGTGCTGC[A/G]CCTCCTTCCTACTGGGGCTGGCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600639 MIM: 616524 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASP2 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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CASP2 - caspase 2 | ||||||
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There are no transcripts associated with this gene. |
LOC105375545 - uncharacterized LOC105375545 | ||||||
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There are no transcripts associated with this gene. |
TMEM139 - transmembrane protein 139 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242773.2 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_001229702.1 | |
NM_001242774.2 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_001229703.1 | |
NM_001242775.2 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_001229704.1 | |
NM_001282876.1 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_001269805.1 | |
NM_001282877.1 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_001269806.1 | |
NM_153345.3 | 151 | Missense Mutation | ACC,GCC | T,A 20 | NP_699176.1 |