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TCACACCAAAATCCTCTTCTTCCTC[A/G]AAGGTTACCCATCCTTTCGGGTTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604297 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYNJ1 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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SYNJ1 - synaptojanin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160302.1 | 4443 | UTR 3 | NP_001153774.1 | |||
NM_001160306.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1437 | NP_001153778.1 | |
NM_003895.3 | 4443 | Silent Mutation | TTC,TTT | F,F 1523 | NP_003886.3 | |
NM_203446.2 | 4443 | UTR 3 | NP_982271.2 | |||
XM_017028494.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1468 | XP_016883983.1 | |
XM_017028495.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1518 | XP_016883984.1 | |
XM_017028496.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1455 | XP_016883985.1 | |
XM_017028497.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1507 | XP_016883986.1 | |
XM_017028498.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1442 | XP_016883987.1 | |
XM_017028499.1 | 4443 | Silent Mutation | TTC,TTT | F,F 1476 | XP_016883988.1 | |
XM_017028500.1 | 4443 | UTR 3 | XP_016883989.1 | |||
XM_017028501.1 | 4443 | UTR 3 | XP_016883990.1 | |||
XM_017028502.1 | 4443 | UTR 3 | XP_016883991.1 | |||
XM_017028503.1 | 4443 | UTR 3 | XP_016883992.1 | |||
XM_017028504.1 | 4443 | UTR 3 | XP_016883993.1 | |||
XM_017028505.1 | 4443 | UTR 3 | XP_016883994.1 |