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GCCTTCTCCAGCTTCGAGTGGCGGG[A/G]GCTCTGGGGGCGGGGATAGGCGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 608060 | ||||||||||||||||||||
Literature Links: |
HES4 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 |
HES4 - hes family bHLH transcription factor 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142467.1 | 1191 | Missense Mutation | CCC,TCC | P,S 96 | NP_001135939.1 | |
NM_021170.3 | 1191 | Missense Mutation | CCC,TCC | P,S 70 | NP_066993.1 | |
XM_005244771.4 | 1191 | Missense Mutation | CCC,TCC | P,S 38 | XP_005244828.1 |