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TTGTTGTTTGACTGAATTCAGAGCC[A/G]TGCACAGCTGCCAGGGCCTCCCCAA
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 | |||
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Global
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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 | 608 | Silent Mutation | CAC,CAT | H,H 161 | NP_000297.1 | |
NM_001122757.2 | 608 | Silent Mutation | CAC,CAT | H,H 187 | NP_001116229.1 |