Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGTCCAGACCAGGTCTCATGCTTG[C/G]TGCCTGGTGCCAGGTGAGTGATGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 616885 MIM: 601785 | ||||||||||||||||||||
Literature Links: |
CARHSP1 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 |
CARHSP1 - calcium regulated heat stable protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042476.2 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001035941.1 | |
NM_001278260.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265189.1 | |
NM_001278261.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265190.1 | |
NM_001278262.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265191.1 | |
NM_001278263.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265192.1 | |
NM_001278264.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265193.1 | |
NM_001278265.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265194.1 | |
NM_001278266.1 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_001265195.1 | |
NM_014316.3 | 433 | Missense Mutation | ACC,AGC | T,S 135 | NP_055131.2 | |
XM_005255228.4 | 433 | Missense Mutation | ACC,AGC | T,S 156 | XP_005255285.3 | |
XM_005255229.4 | 433 | Missense Mutation | ACC,AGC | T,S 135 | XP_005255286.1 | |
XM_011522444.2 | 433 | Missense Mutation | ACC,AGC | T,S 135 | XP_011520746.1 |
PMM2 - phosphomannomutase 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |