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GTTCAATTTCAAACGTCTTCTGTAA[C/G]TCACTGGAGAAAGGGTTGGTAGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603728 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUMB 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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NUMB - NUMB, endocytic adaptor protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005743.1 | 2213 | Missense Mutation | GAC,GAG | D,E 642 | NP_001005743.1 | |
NM_001005744.1 | 2213 | Missense Mutation | GAC,GAG | D,E 594 | NP_001005744.1 | |
NM_001005745.1 | 2213 | Missense Mutation | GAC,GAG | D,E 583 | NP_001005745.1 | |
NM_001320114.1 | 2213 | Missense Mutation | GAC,GAG | D,E 594 | NP_001307043.1 | |
NM_003744.5 | 2213 | Missense Mutation | GAC,GAG | D,E 631 | NP_003735.3 |
PAPLN - papilin, proteoglycan like sulfated glycoprotein | ||||||
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There are no transcripts associated with this gene. |