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TGCGCGCCGAGCCGCGACTTCACGC[C/T]GCTGCTCTGCGACTTCTATACGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615299 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NXNL2 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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NXNL2 - nucleoredoxin-like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161625.1 | 471 | Missense Mutation | CCG,CTG | P,L 46 | NP_001155097.1 | |
NM_145283.2 | 471 | Missense Mutation | CCG,CTG | P,L 46 | NP_660326.2 | |
XM_005251727.3 | 471 | Missense Mutation | CCG,CTG | P,L 46 | XP_005251784.1 | |
XM_011518275.2 | 471 | Missense Mutation | CCG,CTG | P,L 46 | XP_011516577.1 | |
XM_011518276.2 | 471 | Missense Mutation | CCG,CTG | P,L 46 | XP_011516578.1 |