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ATGTCCGTGGGGATGTCTGGAATCA[C/T]CCAGTCCACGAGGACGCTCAGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610109 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANO2 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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ANO2 - anoctamin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278596.1 | 3096 | Missense Mutation | ATG,GTG | M,V 927 | NP_001265525.1 | |
NM_001278597.1 | 3096 | Missense Mutation | ATG,GTG | M,V 923 | NP_001265526.1 | |
XM_006718988.3 | 3096 | Missense Mutation | ATG,GTG | M,V 922 | XP_006719051.1 | |
XM_011520975.2 | 3096 | Missense Mutation | ATG,GTG | M,V 918 | XP_011519277.1 | |
XM_011520978.2 | 3096 | Missense Mutation | ATG,GTG | M,V 711 | XP_011519280.1 | |
XM_017019672.1 | 3096 | Intron | XP_016875161.1 |