Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGGGGACACATGAGGGACTCACCT[A/G]TGGCTCCCTCTGCCTGCAGCAACTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605377 MIM: 600963 | ||||||||||||||||||||
Literature Links: |
BHMG1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
BHMG1 - basic helix-loop-helix and HMG-box containing 1 | ||||||
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There are no transcripts associated with this gene. |
DMPK - dystrophia myotonica protein kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001081560.2 | 2172 | Missense Mutation | ACA,ATA | T,I 528 | NP_001075029.1 | |
NM_001081562.2 | 2172 | Missense Mutation | ACA,ATA | T,I 528 | NP_001075031.1 | |
NM_001081563.2 | 2172 | Missense Mutation | ACA,ATA | T,I 543 | NP_001075032.1 | |
NM_001288764.1 | 2172 | Missense Mutation | ACA,ATA | T,I 559 | NP_001275693.1 | |
NM_001288765.1 | 2172 | Missense Mutation | ACA,ATA | T,I 444 | NP_001275694.1 | |
NM_001288766.1 | 2172 | Missense Mutation | ACA,ATA | T,I 528 | NP_001275695.1 | |
NM_004409.4 | 2172 | Missense Mutation | ACA,ATA | T,I 533 | NP_004400.4 |
SIX5 - SIX homeobox 5 | ||||||
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There are no transcripts associated with this gene. |