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TGCCCAGATACCAAGACCGCCAGCT[C/T]CTGGATGGACATATCCTTGTTGACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602871 MIM: 609771 | ||||||||||||||||||||
Literature Links: |
PPL 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 |
PPL - periplakin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002705.4 | 5341 | Missense Mutation | AAG,GAG | K,E 1747 | NP_002696.3 | |
XM_006720902.3 | 5341 | Missense Mutation | AAG,GAG | K,E 1760 | XP_006720965.1 | |
XM_017023374.1 | 5341 | Missense Mutation | AAG,GAG | K,E 1776 | XP_016878863.1 | |
XM_017023375.1 | 5341 | Missense Mutation | AAG,GAG | K,E 1763 | XP_016878864.1 |
UBN1 - ubinuclein 1 | ||||||
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There are no transcripts associated with this gene. |