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TCTTGTCCTTTCTTGCTACCATCTT[G/T]CACAGTGTCAGAATCATCCTTAGAA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1161 | Missense Mutation | AAA,CAA | K,Q 413 | NP_001120863.1 | |
NM_001289993.1 | 1161 | Missense Mutation | AAA,CAA | K,Q 413 | NP_001276922.1 | |
NM_139163.3 | 1161 | Missense Mutation | AAA,CAA | K,Q 436 | NP_631902.2 | |
XM_011510606.2 | 1161 | Missense Mutation | AAA,CAA | K,Q 418 | XP_011508908.1 | |
XM_011510610.2 | 1161 | Missense Mutation | AAA,CAA | K,Q 333 | XP_011508912.1 | |
XM_011510612.2 | 1161 | Missense Mutation | AAA,CAA | K,Q 227 | XP_011508914.1 | |
XM_017003360.1 | 1161 | Intron | XP_016858849.1 | |||
XM_017003361.1 | 1161 | Intron | XP_016858850.1 | |||
XM_017003362.1 | 1161 | Missense Mutation | AAA,CAA | K,Q 227 | XP_016858851.1 |
CASP8 - caspase 8 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080124.1 | 1161 | Intron | NP_001073593.1 | |||
NM_001080125.1 | 1161 | Intron | NP_001073594.1 | |||
NM_001228.4 | 1161 | Intron | NP_001219.2 | |||
NM_033355.3 | 1161 | Intron | NP_203519.1 | |||
NM_033356.3 | 1161 | Intron | NP_203520.1 | |||
NM_033358.3 | 1161 | Intron | NP_203522.1 | |||
XM_005246885.1 | 1161 | Intron | XP_005246942.1 | |||
XM_005246886.1 | 1161 | Intron | XP_005246943.1 | |||
XM_005246887.1 | 1161 | Intron | XP_005246944.1 | |||
XM_005246888.1 | 1161 | Intron | XP_005246945.1 | |||
XM_005246889.1 | 1161 | Intron | XP_005246946.1 | |||
XM_005246890.3 | 1161 | Intron | XP_005246947.1 | |||
XM_005246891.4 | 1161 | Intron | XP_005246948.1 | |||
XM_005246892.1 | 1161 | Intron | XP_005246949.1 | |||
XM_005246893.2 | 1161 | Intron | XP_005246950.1 | |||
XM_005246894.3 | 1161 | Intron | XP_005246951.1 | |||
XM_005246895.2 | 1161 | Intron | XP_005246952.1 | |||
XM_006712789.1 | 1161 | Intron | XP_006712852.1 | |||
XM_006712790.3 | 1161 | Intron | XP_006712853.1 | |||
XM_006712793.2 | 1161 | Intron | XP_006712856.1 | |||
XM_011511969.1 | 1161 | Intron | XP_011510271.1 |