Product Details
- SNP ID
-
rs13007113
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:25388244 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCACGTCTCCCCCGACTCCGCTCA[A/G]CGAGTCCTGCGGACAGTGGGTGGGG
- Phenotype
-
MIM: 602415
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DTNB
PubMed Links
Gene Details
- Gene
- DTNB
- Gene Name
- dystrobrevin beta
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001256303.1 |
1866 |
Silent Mutation |
CTG,TTG |
L558L |
NP_001243232.1 |
| NM_001256304.1 |
1866 |
Silent Mutation |
CTG,TTG |
L558L |
NP_001243233.1 |
| NM_001256308.2 |
1866 |
Silent Mutation |
CTG,TTG |
L501L |
NP_001243237.1 |
| NM_001320932.1 |
1866 |
Silent Mutation |
CTG,TTG |
L354L |
NP_001307861.1 |
| NM_001320933.1 |
1866 |
Silent Mutation |
CTG,TTG |
L528L |
NP_001307862.1 |
| NM_001320934.1 |
1866 |
Silent Mutation |
CTG,TTG |
L535L |
NP_001307863.1 |
| NM_001320935.1 |
1866 |
Silent Mutation |
CTG,TTG |
L354L |
NP_001307864.1 |
| NM_001320936.1 |
1866 |
Silent Mutation |
CTG,TTG |
L565L |
NP_001307865.1 |
| NM_001320937.1 |
1866 |
Intron |
|
|
NP_001307866.1 |
| NM_021907.4 |
1866 |
Silent Mutation |
CTG,TTG |
L565L |
NP_068707.1 |
| NM_033147.3 |
1866 |
Silent Mutation |
CTG,TTG |
L565L |
NP_149159.2 |
| NM_033148.3 |
1866 |
Silent Mutation |
CTG,TTG |
L535L |
NP_149160.1 |
| NM_183360.2 |
1866 |
Silent Mutation |
CTG,TTG |
L565L |
NP_899204.1 |
| NM_183361.2 |
1866 |
Silent Mutation |
CTG,TTG |
L528L |
NP_899205.1 |
| XM_005264182.1 |
1866 |
Silent Mutation |
CTG,TTG |
L558L |
XP_005264239.1 |
| XM_011532671.1 |
1866 |
Silent Mutation |
CTG,TTG |
L571L |
XP_011530973.1 |
| XM_011532672.2 |
1866 |
Silent Mutation |
CTG,TTG |
L571L |
XP_011530974.1 |
| XM_011532673.1 |
1866 |
Silent Mutation |
CTG,TTG |
L564L |
XP_011530975.1 |
| XM_011532674.1 |
1866 |
Silent Mutation |
CTG,TTG |
L571L |
XP_011530976.1 |
| XM_011532675.1 |
1866 |
Silent Mutation |
CTG,TTG |
L564L |
XP_011530977.1 |
| XM_011532676.1 |
1866 |
Silent Mutation |
CTG,TTG |
L541L |
XP_011530978.1 |
| XM_011532677.2 |
1866 |
Silent Mutation |
CTG,TTG |
L514L |
XP_011530979.1 |
| XM_011532679.1 |
1866 |
Intron |
|
|
XP_011530981.1 |
| XM_011532680.2 |
1866 |
Silent Mutation |
CTG,TTG |
L424L |
XP_011530982.1 |
| XM_011532681.2 |
1866 |
Silent Mutation |
CTG,TTG |
L418L |
XP_011530983.1 |
| XM_017003529.1 |
1866 |
Silent Mutation |
CTG,TTG |
L534L |
XP_016859018.1 |
| XM_017003530.1 |
1866 |
Silent Mutation |
CTG,TTG |
L528L |
XP_016859019.1 |
| XM_017003531.1 |
1866 |
Silent Mutation |
CTG,TTG |
L528L |
XP_016859020.1 |
| XM_017003532.1 |
1866 |
Silent Mutation |
CTG,TTG |
L541L |
XP_016859021.1 |
| XM_017003533.1 |
1866 |
Silent Mutation |
CTG,TTG |
L535L |
XP_016859022.1 |
| XM_017003534.1 |
1866 |
Silent Mutation |
CTG,TTG |
L534L |
XP_016859023.1 |
| XM_017003535.1 |
1866 |
Silent Mutation |
CTG,TTG |
L528L |
XP_016859024.1 |
| XM_017003536.1 |
1866 |
Intron |
|
|
XP_016859025.1 |
| XM_017003537.1 |
1866 |
Silent Mutation |
CTG,TTG |
L433L |
XP_016859026.1 |
| XM_017003538.1 |
1866 |
Silent Mutation |
CTG,TTG |
L411L |
XP_016859027.1 |
| XM_017003539.1 |
1866 |
Silent Mutation |
CTG,TTG |
L394L |
XP_016859028.1 |
| XM_017003540.1 |
1866 |
Silent Mutation |
CTG,TTG |
L388L |
XP_016859029.1 |
| XM_017003541.1 |
1866 |
Silent Mutation |
CTG,TTG |
L388L |
XP_016859030.1 |
| XM_017003542.1 |
1866 |
Silent Mutation |
CTG,TTG |
L337L |
XP_016859031.1 |
| XM_017003543.1 |
1866 |
Silent Mutation |
CTG,TTG |
L337L |
XP_016859032.1 |
| XM_017003544.1 |
1866 |
Silent Mutation |
CTG,TTG |
L331L |
XP_016859033.1 |
| XM_017003545.1 |
1866 |
Silent Mutation |
CTG,TTG |
L331L |
XP_016859034.1 |
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