Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGACGCCTCCGCCACCGGCCACCTC[G/T]CCTGCCTGCAGTGGCTGCTGTCGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 606351 MIM: 609970 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ESPN 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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ESPN - espin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031475.2 | 430 | Missense Mutation | GCC,TCC | A,S 84 | NP_113663.2 | |
XM_005263501.2 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_005263558.1 | |
XM_011542231.1 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_011540533.1 | |
XM_011542232.1 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_011540534.1 | |
XM_011542233.2 | 430 | Intron | XP_011540535.1 | |||
XM_011542236.2 | 430 | Intron | XP_011540538.1 | |||
XM_011542237.1 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_011540539.1 | |
XM_011542238.2 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_011540540.1 | |
XM_017002433.1 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_016857922.1 | |
XM_017002434.1 | 430 | Missense Mutation | GCC,TCC | A,S 84 | XP_016857923.1 |
HES2 - hes family bHLH transcription factor 2 | ||||||
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There are no transcripts associated with this gene. |
MIR4252 - microRNA 4252 | ||||||
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There are no transcripts associated with this gene. |