Product Details
- SNP ID
-
rs144757257
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:23534294 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCTGGATCATCCTCTTCCTCGTC[A/G]TACTCATCATAAATTTCTCCATTGA
- Phenotype
-
MIM: 604975
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SOX5
PubMed Links
Gene Details
- Gene
- SOX5
- Gene Name
- SRY-box 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001261414.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y618Y |
NP_001248343.1 |
NM_001261415.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y729Y |
NP_001248344.1 |
NM_006940.4 |
2364 |
Silent Mutation |
TAC,TAT |
Y739Y |
NP_008871.3 |
NM_152989.3 |
2364 |
Silent Mutation |
TAC,TAT |
Y726Y |
NP_694534.1 |
NM_178010.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y353Y |
NP_821078.1 |
XM_011520831.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y704Y |
XP_011519133.1 |
XM_011520832.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y740Y |
XP_011519134.1 |
XM_011520833.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y730Y |
XP_011519135.1 |
XM_011520834.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_011519136.1 |
XM_011520835.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_011519137.1 |
XM_011520837.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_011519139.1 |
XM_011520838.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y705Y |
XP_011519140.1 |
XM_011520842.2 |
2364 |
Silent Mutation |
TAC,TAT |
Y391Y |
XP_011519144.1 |
XM_017019888.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y769Y |
XP_016875377.1 |
XM_017019889.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y768Y |
XP_016875378.1 |
XM_017019890.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875379.1 |
XM_017019891.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875380.1 |
XM_017019892.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875381.1 |
XM_017019893.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875382.1 |
XM_017019894.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875383.1 |
XM_017019895.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y727Y |
XP_016875384.1 |
XM_017019896.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y726Y |
XP_016875385.1 |
XM_017019897.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y692Y |
XP_016875386.1 |
XM_017019898.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y691Y |
XP_016875387.1 |
XM_017019899.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y691Y |
XP_016875388.1 |
XM_017019900.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y691Y |
XP_016875389.1 |
XM_017019901.1 |
2364 |
Silent Mutation |
TAC,TAT |
Y691Y |
XP_016875390.1 |
XM_017019902.1 |
2364 |
Intron |
|
|
XP_016875391.1 |
XM_017019903.1 |
2364 |
Intron |
|
|
XP_016875392.1 |
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