Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCACTTCCTCCTCTGTAGTGAAG[C/T]GGCCAATTCCAAACCTGAAAAAAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 604205 MIM: 603485 MIM: 607179 | ||||||||||||||||||||
Literature Links: |
CPNE1 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 |
CPNE1 - copine 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
NFS1 - NFS1 cysteine desulfurase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198989.1 | 1159 | Missense Mutation | CAC,CGC | H,R 361 | NP_001185918.1 | |
NM_021100.4 | 1159 | Missense Mutation | CAC,CGC | H,R 412 | NP_066923.3 |
RBM12 - RNA binding motif protein 12 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |