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TAGGACCCTCTGGTTGGTGCTCTCG[C/T]TCGTCAGTCGGAAGCGCTCTTCACG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608023 MIM: 612038 | ||||||||||||||||||||
Literature Links: |
DDX56 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 |
DDX56 - DEAD-box helicase 56 | ||||||
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There are no transcripts associated with this gene. |
TMED4 - transmembrane p24 trafficking protein 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303058.1 | 652 | Intron | NP_001289987.1 | |||
NM_001303059.1 | 652 | Missense Mutation | AAC,AGC | N,S 139 | NP_001289988.1 | |
NM_001303060.1 | 652 | Intron | NP_001289989.1 | |||
NM_001303061.1 | 652 | Missense Mutation | AAC,AGC | N,S 129 | NP_001289990.1 | |
NM_001303062.1 | 652 | Missense Mutation | AAC,AGC | N,S 129 | NP_001289991.1 | |
NM_182547.3 | 652 | Missense Mutation | AAC,AGC | N,S 188 | NP_872353.2 |