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TCTTCCAAGTCTCTGTGCCTGTCCC[A/G]GTCAGGGCTCCTCCTTCCCCACTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616023 MIM: 147450 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCAF4 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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SCAF4 - SR-related CTD associated factor 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145444.1 | 3499 | Missense Mutation | CGG,TGG | R,W 1025 | NP_001138916.1 | |
NM_001145445.1 | 3499 | Missense Mutation | CGG,TGG | R,W 1018 | NP_001138917.1 | |
NM_020706.2 | 3499 | Missense Mutation | CGG,TGG | R,W 1040 | NP_065757.1 | |
XM_005261017.2 | 3499 | Missense Mutation | CGG,TGG | R,W 981 | XP_005261074.1 | |
XM_006724035.2 | 3499 | Missense Mutation | CGG,TGG | R,W 1036 | XP_006724098.1 | |
XM_006724036.2 | 3499 | Missense Mutation | CGG,TGG | R,W 1014 | XP_006724099.1 | |
XM_017028415.1 | 3499 | Missense Mutation | CGG,TGG | R,W 1039 | XP_016883904.1 | |
XM_017028416.1 | 3499 | Missense Mutation | CGG,TGG | R,W 1017 | XP_016883905.1 | |
XM_017028417.1 | 3499 | Missense Mutation | CGG,TGG | R,W 959 | XP_016883906.1 |
SOD1 - superoxide dismutase 1, soluble | ||||||
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There are no transcripts associated with this gene. |