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TGCCCCGGCCTTCAAGGCCACCCCC[C/T]TTCGTGTTCTTCAGGTAGCCTGCGA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612835 | |||||||||||||||||||||||
Literature Links: |
PLCH1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
PLCH1 - phospholipase C eta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130960.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1643 | NP_001124432.1 | |
NM_001130961.1 | 5183 | UTR 3 | NP_001124433.1 | |||
NM_014996.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1605 | NP_055811.1 | |
XM_005247238.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1655 | XP_005247295.1 | |
XM_005247239.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1623 | XP_005247296.1 | |
XM_011512560.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1655 | XP_011510862.1 | |
XM_011512561.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1655 | XP_011510863.1 | |
XM_011512562.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1655 | XP_011510864.1 | |
XM_011512564.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1635 | XP_011510866.1 | |
XM_011512565.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1625 | XP_011510867.1 | |
XM_011512566.2 | 5183 | Silent Mutation | AAA,AAG | K,K 1625 | XP_011510868.1 | |
XM_011512567.1 | 5183 | UTR 3 | XP_011510869.1 | |||
XM_017005923.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1654 | XP_016861412.1 | |
XM_017005924.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1634 | XP_016861413.1 | |
XM_017005925.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1631 | XP_016861414.1 | |
XM_017005926.1 | 5183 | Silent Mutation | AAA,AAG | K,K 1625 | XP_016861415.1 | |
XM_017005927.1 | 5183 | Intron | XP_016861416.1 | |||
XM_017005928.1 | 5183 | UTR 3 | XP_016861417.1 | |||
XM_017005929.1 | 5183 | UTR 3 | XP_016861418.1 |