Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604515 | ||||||||||||||||||||
Literature Links: |
BLNK 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 |
BLNK - B-cell linker | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114094.1 | 1326 | Missense Mutation | ACC,CCC | T,P 424 | NP_001107566.1 | |
NM_001258440.1 | 1326 | Missense Mutation | ACC,CCC | T,P 395 | NP_001245369.1 | |
NM_001258441.1 | 1326 | Missense Mutation | ACC,CCC | T,P 372 | NP_001245370.1 | |
NM_001258442.1 | 1326 | Missense Mutation | ACC,CCC | T,P 290 | NP_001245371.1 | |
NM_013314.3 | 1326 | Missense Mutation | ACC,CCC | T,P 447 | NP_037446.1 | |
XM_011539728.2 | 1326 | Missense Mutation | ACC,CCC | T,P 447 | XP_011538030.1 | |
XM_017016159.1 | 1326 | Missense Mutation | ACC,CCC | T,P 424 | XP_016871648.1 |