Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGCCTGTCTGCTGAGGCCAACCTG[C/T]CATCATCTACACCATTGAAAGCTGC
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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 2071 | Missense Mutation | GAC,GGC | D,G 595 | NP_001005743.1 | |
NM_001005744.1 | 2071 | Missense Mutation | GAC,GGC | D,G 547 | NP_001005744.1 | |
NM_001005745.1 | 2071 | Missense Mutation | GAC,GGC | D,G 536 | NP_001005745.1 | |
NM_001320114.1 | 2071 | Missense Mutation | GAC,GGC | D,G 547 | NP_001307043.1 | |
NM_003744.5 | 2071 | Missense Mutation | GAC,GGC | D,G 584 | NP_003735.3 |
PAPLN - papilin, proteoglycan like sulfated glycoprotein | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |