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ATCGATGCCCCCCGTTGGGACCAGC[A/G]CACCTTCCTGGGGAGAGTGAAGCAC
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 |
---|---|---|
Global - Not Available | 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 |
SFXN2 - sideroflexin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178858.4 | 267 | Missense Mutation | CAC,CGC | H,R 18 | NP_849189.1 | |
XM_011539261.2 | 267 | Missense Mutation | CAC,CGC | H,R 27 | XP_011537563.1 | |
XM_011539262.2 | 267 | Missense Mutation | CAC,CGC | H,R 18 | XP_011537564.1 | |
XM_011539263.2 | 267 | UTR 5 | XP_011537565.1 | |||
XM_011539264.2 | 267 | UTR 5 | XP_011537566.1 | |||
XM_017015663.1 | 267 | Missense Mutation | CAC,CGC | H,R 36 | XP_016871152.1 |