Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TACTGGGCGTAGAAAGCCACTTTGA[C/G]TCTCTCGATCTGGTGGCATAACTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615392 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SFMBT2 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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SFMBT2 - Scm-like with four mbt domains 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018039.1 | 2843 | Missense Mutation | CTC,GTC | L,V 884 | NP_001018049.1 | |
NM_001029880.2 | 2843 | Missense Mutation | CTC,GTC | L,V 884 | NP_001025051.1 | |
XM_005252551.2 | 2843 | Missense Mutation | CTC,GTC | L,V 632 | XP_005252608.1 | |
XM_006717490.2 | 2843 | Missense Mutation | CTC,GTC | L,V 715 | XP_006717553.1 | |
XM_011519611.1 | 2843 | Missense Mutation | CTC,GTC | L,V 884 | XP_011517913.1 | |
XM_017016466.1 | 2843 | Missense Mutation | CTC,GTC | L,V 884 | XP_016871955.1 |