Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGAGCCTCCTGAGAACCCGCCACC[A/G]GTCCTTATGGAGCCCAGGAAGAAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605310 MIM: 164177 MIM: 600912 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCHCR1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
CCHCR1 - coiled-coil alpha-helical rod protein 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
POU5F1 - POU class 5 homeobox 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TCF19 - transcription factor 19 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077511.1 | 1262 | Silent Mutation | CCA,CCG | P,P 246 | NP_001070979.1 | |
NM_001318908.1 | 1262 | Silent Mutation | CCA,CCG | P,P 246 | NP_001305837.1 | |
NM_007109.2 | 1262 | Silent Mutation | CCA,CCG | P,P 246 | NP_009040.2 |