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CTGACTGCTCAGTCCACTCCCAACA[A/G]TACTGTGTGGAAGATTGCAAGTGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300320 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NXT2 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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NXT2 - nuclear transport factor 2 like export factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242617.1 | 548 | Missense Mutation | AAT,AGT | N,S 124 | NP_001229546.1 | |
NM_001242618.1 | 548 | Missense Mutation | AAT,AGT | N,S 96 | NP_001229547.1 | |
NM_018698.4 | 548 | Missense Mutation | AAT,AGT | N,S 179 | NP_061168.2 | |
XM_011530989.2 | 548 | Missense Mutation | AAT,AGT | N,S 123 | XP_011529291.1 | |
XM_017029648.1 | 548 | Missense Mutation | AAT,AGT | N,S 96 | XP_016885137.1 |