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TGACTGCCTCACCGGGCGCGCGACA[A/C]CACGTAGATGAGAAGTGGCAGCAGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612402 | |||||||||||||||||||||||
Literature Links: |
ALS2CL PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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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 |
ALS2CL - ALS2 C-terminal like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190707.1 | 2767 | Missense Mutation | GTG,TTG | V,L 891 | NP_001177636.1 | |
NM_147129.4 | 2767 | Missense Mutation | GTG,TTG | V,L 891 | NP_667340.2 | |
XM_005265025.1 | 2767 | Missense Mutation | GTG,TTG | V,L 406 | XP_005265082.1 | |
XM_006713091.2 | 2767 | Intron | XP_006713154.1 | |||
XM_006713093.3 | 2767 | Intron | XP_006713156.1 | |||
XM_006713094.3 | 2767 | Intron | XP_006713157.1 | |||
XM_011533572.2 | 2767 | Intron | XP_011531874.1 | |||
XM_017006120.1 | 2767 | Intron | XP_016861609.1 |