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GCGGCTGCTGGGGCGCCTGGGGGCC[A/G]AGGGGGACTGTAGCGTGCTGCTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609410 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYNJ2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SYNJ2 - synaptojanin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178088.1 | 152 | Intron | NP_001171559.1 | |||
NM_003898.3 | 152 | Missense Mutation | AAG,GAG | K,E 16 | NP_003889.1 | |
XM_005267198.4 | 152 | Intron | XP_005267255.1 | |||
XM_005267199.2 | 152 | Intron | XP_005267256.1 | |||
XM_005267200.1 | 152 | Intron | XP_005267257.1 | |||
XM_006715592.3 | 152 | Missense Mutation | AAG,GAG | K,E 16 | XP_006715655.1 | |
XM_011536224.1 | 152 | Missense Mutation | AAG,GAG | K,E 16 | XP_011534526.1 | |
XM_011536225.1 | 152 | Intron | XP_011534527.1 | |||
XM_011536226.2 | 152 | Intron | XP_011534528.1 | |||
XM_011536227.2 | 152 | Missense Mutation | AAG,GAG | K,E 16 | XP_011534529.1 | |
XM_011536228.2 | 152 | Intron | XP_011534530.1 | |||
XM_011536230.2 | 152 | Missense Mutation | AAG,GAG | K,E 16 | XP_011534532.1 | |
XM_017011406.1 | 152 | Intron | XP_016866895.1 |