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GTTTTCCCTACAGCTCTTGTCTTCT[A/G]GCGACTTTTCCTACTTGTATCTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612880 | ||||||||||||||||||||
Literature Links: |
SYTL2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
SYTL2 - synaptotagmin like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001162951.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 830 | NP_001156423.1 | |
NM_001162952.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 232 | NP_001156424.1 | |
NM_001162953.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 831 | NP_001156425.1 | |
NM_001289608.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 798 | NP_001276537.1 | |
NM_001289609.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 151 | NP_001276538.1 | |
NM_001289610.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 232 | NP_001276539.1 | |
NM_032943.4 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 806 | NP_116561.1 | |
NM_206929.3 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 272 | NP_996812.1 | |
NM_206930.3 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 261 | NP_996813.1 | |
XM_005274057.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2119 | XP_005274114.1 | |
XM_005274060.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 847 | XP_005274117.1 | |
XM_005274061.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 846 | XP_005274118.1 | |
XM_005274062.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 820 | XP_005274119.1 | |
XM_005274063.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 807 | XP_005274120.1 | |
XM_005274066.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 790 | XP_005274123.1 | |
XM_005274067.4 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 272 | XP_005274124.1 | |
XM_011545105.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2135 | XP_011543407.1 | |
XM_011545106.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2134 | XP_011543408.1 | |
XM_011545107.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2108 | XP_011543409.1 | |
XM_011545108.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2095 | XP_011543410.1 | |
XM_011545109.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2086 | XP_011543411.1 | |
XM_011545110.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2078 | XP_011543412.1 | |
XM_011545112.1 | 6471 | Intron | XP_011543414.1 | |||
XM_011545114.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 261 | XP_011543416.1 | |
XM_011545115.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 221 | XP_011543417.1 | |
XM_011545116.2 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 221 | XP_011543418.1 | |
XM_017017933.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2118 | XP_016873422.1 | |
XM_017017934.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2107 | XP_016873423.1 | |
XM_017017935.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 2067 | XP_016873424.1 | |
XM_017017936.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 1992 | XP_016873425.1 | |
XM_017017937.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 772 | XP_016873426.1 | |
XM_017017938.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 758 | XP_016873427.1 | |
XM_017017939.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 341 | XP_016873428.1 | |
XM_017017940.1 | 6471 | Nonsense Mutation | CAG,TAG | Q,* 325 | XP_016873429.1 |