Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCACCCGTTTTTCTCTCTGCCTCC[A/G]GTTGCAAAACCAAACTCTTACTACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609512 MIM: 173110 | ||||||||||||||||||||
Literature Links: |
CHMP2B 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 |
CHMP2B - charged multivesicular body protein 2B | ||||||
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There are no transcripts associated with this gene. |
POU1F1 - POU class 1 homeobox 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000306.3 | 918 | Missense Mutation | CGG,TGG | R,W 265 | NP_000297.1 | |
NM_001122757.2 | 918 | Missense Mutation | CGG,TGG | R,W 291 | NP_001116229.1 |