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CGCACTTCAGATGAATGTTCTCTTC[C/T]GTCAGGATCTGTATGGTGTGCTTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601763 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALS2CR12 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 | 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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ALS2CR12 - amyotrophic lateral sclerosis 2 chromosome region candidate 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127391.2 | 1046 | Silent Mutation | ACA,ACG | T,T 374 | NP_001120863.1 | |
NM_001289993.1 | 1046 | Silent Mutation | ACA,ACG | T,T 374 | NP_001276922.1 | |
NM_139163.3 | 1046 | Silent Mutation | ACA,ACG | T,T 397 | NP_631902.2 | |
XM_011510606.2 | 1046 | Silent Mutation | ACA,ACG | T,T 379 | XP_011508908.1 | |
XM_011510610.2 | 1046 | Silent Mutation | ACA,ACG | T,T 294 | XP_011508912.1 | |
XM_011510612.2 | 1046 | Silent Mutation | ACA,ACG | T,T 188 | XP_011508914.1 | |
XM_017003360.1 | 1046 | Silent Mutation | ACA,ACG | T,T 397 | XP_016858849.1 | |
XM_017003361.1 | 1046 | Intron | XP_016858850.1 | |||
XM_017003362.1 | 1046 | Silent Mutation | ACA,ACG | T,T 188 | XP_016858851.1 |
CASP8 - caspase 8 | ||||||
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There are no transcripts associated with this gene. |