Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGAAAGAAGAGGAGAAGGAGCAGT[C/T]CGTGCTCAAGTAAGGACCTGGCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606630 | ||||||||||||||||||||
Literature Links: |
RIMS2 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 |
RIMS2 - regulating synaptic membrane exocytosis 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100117.2 | 185 | Missense Mutation | TCC,TTC | S,F 56 | NP_001093587.1 | |
NM_001282881.1 | 185 | Intron | NP_001269810.1 | |||
NM_001282882.1 | 185 | Intron | NP_001269811.1 | |||
NM_014677.4 | 185 | Intron | NP_055492.3 | |||
XM_005251106.3 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_005251163.1 | |
XM_005251107.3 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_005251164.1 | |
XM_006716698.3 | 185 | Intron | XP_006716761.1 | |||
XM_011517395.2 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_011515697.1 | |
XM_011517398.2 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_011515700.1 | |
XM_017014006.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869495.1 | |
XM_017014007.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869496.1 | |
XM_017014008.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869497.1 | |
XM_017014009.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869498.1 | |
XM_017014010.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869499.1 | |
XM_017014011.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869500.1 | |
XM_017014012.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869501.1 | |
XM_017014013.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869502.1 | |
XM_017014014.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869503.1 | |
XM_017014015.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869504.1 | |
XM_017014016.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869505.1 | |
XM_017014017.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869506.1 | |
XM_017014018.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869507.1 | |
XM_017014019.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869508.1 | |
XM_017014020.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869509.1 | |
XM_017014021.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869510.1 | |
XM_017014022.1 | 185 | Intron | XP_016869511.1 | |||
XM_017014023.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869512.1 | |
XM_017014024.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869513.1 | |
XM_017014025.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869514.1 | |
XM_017014026.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869515.1 | |
XM_017014027.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869516.1 | |
XM_017014028.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869517.1 | |
XM_017014029.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869518.1 | |
XM_017014030.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869519.1 | |
XM_017014031.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869520.1 | |
XM_017014032.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869521.1 | |
XM_017014033.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869522.1 | |
XM_017014034.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869523.1 | |
XM_017014035.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869524.1 | |
XM_017014036.1 | 185 | Intron | XP_016869525.1 | |||
XM_017014037.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869526.1 | |
XM_017014038.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869527.1 | |
XM_017014039.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869528.1 | |
XM_017014040.1 | 185 | Intron | XP_016869529.1 | |||
XM_017014041.1 | 185 | Intron | XP_016869530.1 | |||
XM_017014042.1 | 185 | Missense Mutation | TCC,TTC | S,F 56 | XP_016869531.1 | |
XM_017014043.1 | 185 | Intron | XP_016869532.1 | |||
XM_017014044.1 | 185 | Intron | XP_016869533.1 | |||
XM_017014045.1 | 185 | Intron | XP_016869534.1 | |||
XM_017014046.1 | 185 | Intron | XP_016869535.1 |