Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CATTCGCCGTGGAGACTTTTTCTAC[C/G]ACAGCGAAAATCCCAAGTATCCAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 611077 MIM: 612048 | ||||||||||||||||||||
Literature Links: |
CHCHD4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
CHCHD4 - coiled-coil-helix-coiled-coil-helix domain containing 4 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TMEM43 - transmembrane protein 43 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024334.2 | 933 | Missense Mutation | CAC,GAC | H,D 227 | NP_077310.1 | |
XM_017007176.1 | 933 | Missense Mutation | CAC,GAC | H,D 192 | XP_016862665.1 |