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AACAGAAAGATAATTGAAGCACAGC[A/G]AAAAGCCATTCAGGAACTGCAAGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 602162 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYCP1 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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SYCP1 - synaptonemal complex protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282541.1 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | NP_001269470.1 | |
NM_001282542.1 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | NP_001269471.1 | |
NM_003176.3 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | NP_003167.2 | |
XM_005271155.3 | 677 | Missense Mutation | CAA,CGA | Q,R 127 | XP_005271212.1 | |
XM_005271156.1 | 677 | Intron | XP_005271213.1 | |||
XM_006710859.1 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | XP_006710922.1 | |
XM_011542037.2 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | XP_011540339.1 | |
XM_011542038.2 | 677 | Intron | XP_011540340.1 | |||
XM_011542039.1 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | XP_011540341.1 | |
XM_017002184.1 | 677 | Missense Mutation | CAA,CGA | Q,R 145 | XP_016857673.1 | |
XM_017002185.1 | 677 | Intron | XP_016857674.1 |