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GCGGGAGCTGGACTGGGCCAAGGTG[A/C]TGGTGGAGAAGAGCAGGTGAGGGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615570 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SFXN2 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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SFXN2 - sideroflexin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178858.4 | 359 | Missense Mutation | ATG,CTG | M,L 49 | NP_849189.1 | |
XM_011539261.2 | 359 | Missense Mutation | ATG,CTG | M,L 58 | XP_011537563.1 | |
XM_011539262.2 | 359 | Missense Mutation | ATG,CTG | M,L 49 | XP_011537564.1 | |
XM_011539263.2 | 359 | UTR 5 | XP_011537565.1 | |||
XM_011539264.2 | 359 | UTR 5 | XP_011537566.1 | |||
XM_017015663.1 | 359 | Missense Mutation | ATG,CTG | M,L 67 | XP_016871152.1 |