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GGTGTCCAGGGAAGGCGGTAAGAGA[C/T]GCTGGAACACACTGCTCATTTCCGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608287 | ||||||||||||||||||||
Literature Links: |
PCDH18 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 |
PCDH18 - protocadherin 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300828.1 | 3451 | Missense Mutation | CAT,CGT | H,R 1013 | NP_001287757.1 | |
NM_019035.4 | 3451 | Missense Mutation | CAT,CGT | H,R 1014 | NP_061908.1 | |
XM_006714239.3 | 3451 | Intron | XP_006714302.1 | |||
XM_017008311.1 | 3451 | UTR 3 | XP_016863800.1 |