Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTTTCCCATTCTGCATCTTCTCTT[C/T]TTCTTCCTCTGCACCTTCCTCTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 602415 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DTNB PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
DTNB - dystrobrevin beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256303.1 | 1932 | Missense Mutation | AAA,GAA | K,E 610 | NP_001243232.1 | |
NM_001256304.1 | 1932 | Intron | NP_001243233.1 | |||
NM_001256308.2 | 1932 | Intron | NP_001243237.1 | |||
NM_001320932.1 | 1932 | Intron | NP_001307861.1 | |||
NM_001320933.1 | 1932 | Missense Mutation | AAA,GAA | K,E 580 | NP_001307862.1 | |
NM_001320934.1 | 1932 | Missense Mutation | AAA,GAA | K,E 587 | NP_001307863.1 | |
NM_001320935.1 | 1932 | Missense Mutation | AAA,GAA | K,E 406 | NP_001307864.1 | |
NM_001320936.1 | 1932 | Intron | NP_001307865.1 | |||
NM_001320937.1 | 1932 | Intron | NP_001307866.1 | |||
NM_021907.4 | 1932 | Missense Mutation | AAA,GAA | K,E 617 | NP_068707.1 | |
NM_033147.3 | 1932 | Missense Mutation | AAA,GAA | K,E 587 | NP_149159.2 | |
NM_033148.3 | 1932 | Missense Mutation | AAA,GAA | K,E 557 | NP_149160.1 | |
NM_183360.2 | 1932 | Intron | NP_899204.1 | |||
NM_183361.2 | 1932 | Missense Mutation | AAA,GAA | K,E 550 | NP_899205.1 | |
XM_005264182.1 | 1932 | Intron | XP_005264239.1 | |||
XM_011532671.1 | 1932 | Missense Mutation | AAA,GAA | K,E 623 | XP_011530973.1 | |
XM_011532672.2 | 1932 | Intron | XP_011530974.1 | |||
XM_011532673.1 | 1932 | Missense Mutation | AAA,GAA | K,E 616 | XP_011530975.1 | |
XM_011532674.1 | 1932 | Intron | XP_011530976.1 | |||
XM_011532675.1 | 1932 | Intron | XP_011530977.1 | |||
XM_011532676.1 | 1932 | Missense Mutation | AAA,GAA | K,E 593 | XP_011530978.1 | |
XM_011532677.2 | 1932 | Missense Mutation | AAA,GAA | K,E 566 | XP_011530979.1 | |
XM_011532679.1 | 1932 | Intron | XP_011530981.1 | |||
XM_011532680.2 | 1932 | Missense Mutation | AAA,GAA | K,E 476 | XP_011530982.1 | |
XM_011532681.2 | 1932 | Missense Mutation | AAA,GAA | K,E 470 | XP_011530983.1 | |
XM_017003529.1 | 1932 | Missense Mutation | AAA,GAA | K,E 586 | XP_016859018.1 | |
XM_017003530.1 | 1932 | Intron | XP_016859019.1 | |||
XM_017003531.1 | 1932 | Intron | XP_016859020.1 | |||
XM_017003532.1 | 1932 | Intron | XP_016859021.1 | |||
XM_017003533.1 | 1932 | Intron | XP_016859022.1 | |||
XM_017003534.1 | 1932 | Intron | XP_016859023.1 | |||
XM_017003535.1 | 1932 | Intron | XP_016859024.1 | |||
XM_017003536.1 | 1932 | Intron | XP_016859025.1 | |||
XM_017003537.1 | 1932 | Missense Mutation | AAA,GAA | K,E 485 | XP_016859026.1 | |
XM_017003538.1 | 1932 | Missense Mutation | AAA,GAA | K,E 463 | XP_016859027.1 | |
XM_017003539.1 | 1932 | Missense Mutation | AAA,GAA | K,E 446 | XP_016859028.1 | |
XM_017003540.1 | 1932 | Missense Mutation | AAA,GAA | K,E 440 | XP_016859029.1 | |
XM_017003541.1 | 1932 | Intron | XP_016859030.1 | |||
XM_017003542.1 | 1932 | Missense Mutation | AAA,GAA | K,E 389 | XP_016859031.1 | |
XM_017003543.1 | 1932 | Missense Mutation | AAA,GAA | K,E 389 | XP_016859032.1 | |
XM_017003544.1 | 1932 | Missense Mutation | AAA,GAA | K,E 383 | XP_016859033.1 | |
XM_017003545.1 | 1932 | Missense Mutation | AAA,GAA | K,E 383 | XP_016859034.1 |