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TTATACTTTTCTTCAGTTTCAGCAA[A/G]CTTGGTTTGAAGCATTTTCTCCAGA
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 | 999 | Missense Mutation | CTT,TTT | L,F 359 | NP_001120863.1 | |
NM_001289993.1 | 999 | Missense Mutation | CTT,TTT | L,F 359 | NP_001276922.1 | |
NM_139163.3 | 999 | Missense Mutation | CTT,TTT | L,F 382 | NP_631902.2 | |
XM_011510606.2 | 999 | Missense Mutation | CTT,TTT | L,F 364 | XP_011508908.1 | |
XM_011510610.2 | 999 | Missense Mutation | CTT,TTT | L,F 279 | XP_011508912.1 | |
XM_011510612.2 | 999 | Missense Mutation | CTT,TTT | L,F 173 | XP_011508914.1 | |
XM_017003360.1 | 999 | Missense Mutation | CTT,TTT | L,F 382 | XP_016858849.1 | |
XM_017003361.1 | 999 | Intron | XP_016858850.1 | |||
XM_017003362.1 | 999 | Missense Mutation | CTT,TTT | L,F 173 | XP_016858851.1 |
CASP8 - caspase 8 | ||||||
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There are no transcripts associated with this gene. |