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CTGCGTGGACTTTGTCACTTGCATA[A/G]TAATAGCATGTGCCTCATTGTTCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600537 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PYROXD1 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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PYROXD1 - pyridine nucleotide-disulphide oxidoreductase domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024854.3 | 2179 | Intron | NP_079130.2 | |||
XM_006719153.3 | 2179 | Intron | XP_006719216.1 | |||
XM_017019976.1 | 2179 | Intron | XP_016875465.1 |
RECQL - RecQ like helicase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002907.3 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | NP_002898.2 | |
NM_032941.2 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | NP_116559.1 | |
XM_005253461.3 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | XP_005253518.1 | |
XM_005253462.4 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | XP_005253519.1 | |
XM_005253463.3 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | XP_005253520.1 | |
XM_005253464.3 | 2179 | Missense Mutation | ACT,ATT | T,I 587 | XP_005253521.1 |