Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCAAGTAGTTCATTGTTATCAATT[A/G]CATATGGACTCCGAAGCTTTTTTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 616296 | ||||||||||||||||||||
Literature Links: |
MCTP1 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 |
MCTP1 - multiple C2 and transmembrane domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002796.3 | 2271 | Missense Mutation | GCA,GTA | A,V 736 | NP_001002796.1 | |
NM_001297777.1 | 2271 | Missense Mutation | GCA,GTA | A,V 650 | NP_001284706.1 | |
NM_024717.5 | 2271 | Missense Mutation | GCA,GTA | A,V 957 | NP_078993.4 | |
XM_005272082.4 | 2271 | Missense Mutation | GCA,GTA | A,V 751 | XP_005272139.1 | |
XM_005272090.4 | 2271 | Missense Mutation | GCA,GTA | A,V 690 | XP_005272147.1 | |
XM_006714692.3 | 2271 | Missense Mutation | GCA,GTA | A,V 692 | XP_006714755.1 | |
XM_011543649.2 | 2271 | Missense Mutation | GCA,GTA | A,V 698 | XP_011541951.1 | |
XM_011543650.2 | 2271 | Missense Mutation | GCA,GTA | A,V 618 | XP_011541952.1 | |
XM_017009855.1 | 2271 | Missense Mutation | GCA,GTA | A,V 685 | XP_016865344.1 | |
XM_017009856.1 | 2271 | Missense Mutation | GCA,GTA | A,V 736 | XP_016865345.1 | |
XM_017009857.1 | 2271 | Missense Mutation | GCA,GTA | A,V 672 | XP_016865346.1 | |
XM_017009858.1 | 2271 | Missense Mutation | GCA,GTA | A,V 659 | XP_016865347.1 | |
XM_017009859.1 | 2271 | Missense Mutation | GCA,GTA | A,V 658 | XP_016865348.1 | |
XM_017009860.1 | 2271 | Missense Mutation | GCA,GTA | A,V 710 | XP_016865349.1 | |
XM_017009861.1 | 2271 | Missense Mutation | GCA,GTA | A,V 652 | XP_016865350.1 | |
XM_017009862.1 | 2271 | Missense Mutation | GCA,GTA | A,V 639 | XP_016865351.1 | |
XM_017009863.1 | 2271 | Missense Mutation | GCA,GTA | A,V 677 | XP_016865352.1 | |
XM_017009864.1 | 2271 | Missense Mutation | GCA,GTA | A,V 652 | XP_016865353.1 | |
XM_017009865.1 | 2271 | Intron | XP_016865354.1 |