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GTCTGGGTTCTTGTCCTCGGAGATG[C/T]GGAACAGGACGGCAGCAGCGTAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 173325 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
JUP 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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JUP - junction plakoglobin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002230.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | NP_002221.1 | |
NM_021991.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | NP_068831.1 | |
XM_006721873.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_006721936.1 | |
XM_006721874.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_006721937.1 | |
XM_006721875.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_006721938.1 | |
XM_006721878.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_006721941.1 | |
XM_011524753.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_011523055.1 | |
XM_011524755.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_011523057.1 | |
XM_011524756.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_011523058.1 | |
XM_011524757.2 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_011523059.1 | |
XM_011524758.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_011523060.1 | |
XM_017024588.1 | 2335 | Missense Mutation | CAC,CGC | H,R 668 | XP_016880077.1 | |
XM_017024589.1 | 2335 | Missense Mutation | CAC,CGC | H,R 668 | XP_016880078.1 | |
XM_017024590.1 | 2335 | Missense Mutation | CAC,CGC | H,R 651 | XP_016880079.1 |