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ATGCCCTCGGTAACACAGAGGCTGA[A/G]AGATCCTGACATAAATCCTTGTTTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611238 MIM: 603026 | ||||||||||||||||||||
Literature Links: |
CHCHD7 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 |
CHCHD7 - coiled-coil-helix-coiled-coil-helix domain containing 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011667.2 | 242 | Missense Mutation | AAA,AGA | K,R 34 | NP_001011667.1 | |
NM_001011668.2 | 242 | Missense Mutation | AAA,AGA | K,R 34 | NP_001011668.1 | |
NM_001011669.2 | 242 | Missense Mutation | AAA,AGA | K,R 21 | NP_001011669.1 | |
NM_001011670.2 | 242 | Missense Mutation | AAA,AGA | K,R 9 | NP_001011670.1 | |
NM_001011671.2 | 242 | Missense Mutation | AAA,AGA | K,R 9 | NP_001011671.1 | |
NM_001317858.1 | 242 | Missense Mutation | AAA,AGA | K,R 21 | NP_001304787.1 | |
NM_001317859.1 | 242 | Missense Mutation | AAA,AGA | K,R 9 | NP_001304788.1 | |
NM_024300.4 | 242 | Missense Mutation | AAA,AGA | K,R 21 | NP_077276.2 |
PLAG1 - PLAG1 zinc finger | ||||||
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There are no transcripts associated with this gene. |