Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCGCCCCCACCATGGTGGGGTTCA[C/G]AGGGTCTGTCCACAGGTCCCTGTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 114220 MIM: 614030 | ||||||||||||||||||||
Literature Links: |
CAPN1 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 |
CAPN1 - calpain 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SPDYC - speedy/RINGO cell cycle regulator family member C | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008778.1 | 1057 | Missense Mutation | CAC,CAG | H,Q 195 | NP_001008778.1 | |
XM_017017705.1 | 1057 | Missense Mutation | CAC,CAG | H,Q 202 | XP_016873194.1 | |
XM_017017706.1 | 1057 | Missense Mutation | CAC,CAG | H,Q 176 | XP_016873195.1 | |
XM_017017707.1 | 1057 | Missense Mutation | CAC,CAG | H,Q 202 | XP_016873196.1 | |
XM_017017708.1 | 1057 | Missense Mutation | CAC,CAG | H,Q 176 | XP_016873197.1 | |
XM_017017709.1 | 1057 | Intron | XP_016873198.1 | |||
XM_017017710.1 | 1057 | Intron | XP_016873199.1 |