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AGAGGTGAATGAAGACATTCCACCC[C/T]GTCGGTACTTCCGCTCTGGAGTTGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606247 | ||||||||||||||||||||
Literature Links: |
STAMBP 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 |
STAMBP - STAM binding protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006463.4 | 200 | Missense Mutation | CGT,TGT | R,C 34 | NP_006454.1 | |
NM_201647.2 | 200 | Missense Mutation | CGT,TGT | R,C 34 | NP_964010.1 | |
NM_213622.2 | 200 | Missense Mutation | CGT,TGT | R,C 34 | NP_998787.1 | |
XM_005264088.3 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_005264145.1 | |
XM_011532483.2 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_011530785.1 | |
XM_011532484.2 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_011530786.1 | |
XM_011532485.2 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_011530787.1 | |
XM_017003175.1 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_016858664.1 | |
XM_017003176.1 | 200 | Missense Mutation | CGT,TGT | R,C 34 | XP_016858665.1 | |
XM_017003177.1 | 200 | UTR 5 | XP_016858666.1 | |||
XM_017003178.1 | 200 | UTR 5 | XP_016858667.1 | |||
XM_017003179.1 | 200 | UTR 5 | XP_016858668.1 | |||
XM_017003180.1 | 200 | UTR 5 | XP_016858669.1 | |||
XM_017003181.1 | 200 | UTR 5 | XP_016858670.1 |