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GCACACTCCAGAAACTGTTTGATCT[C/T]ATAGAGGCAAGGCTGCTGCTGCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616244 MIM: 172470 | ||||||||||||||||||||
Literature Links: |
CHCHD2 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 |
CHCHD2 - coiled-coil-helix-coiled-coil-helix domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320327.1 | Intron | NP_001307256.1 | ||||
NM_016139.3 | Intron | NP_057223.1 |
PHKG1 - phosphorylase kinase catalytic subunit gamma 1 | ||||||
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There are no transcripts associated with this gene. |