Product Details
- SNP ID
-
rs199528352
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:47251282 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCCTTCATTTTCTTTCTCAGGAT[A/G]TTGAGTGAACTCTGCTTTCCCGGTT
- Phenotype
-
MIM: 181590
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
STIL
PubMed Links
Gene Details
- Gene
- STIL
- Gene Name
- SCL/TAL1 interrupting locus
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001048166.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1241Y |
NP_001041631.1 |
NM_001282936.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1240Y |
NP_001269865.1 |
NM_001282937.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1223Y |
NP_001269866.1 |
NM_001282938.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1194Y |
NP_001269867.1 |
NM_001282939.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1176Y |
NP_001269868.1 |
NM_003035.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1240Y |
NP_003026.2 |
XM_006710834.3 |
3152 |
Missense Mutation |
CAT,TAT |
H1241Y |
XP_006710897.1 |
XM_011541991.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1241Y |
XP_011540293.1 |
XM_011541992.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1241Y |
XP_011540294.1 |
XM_011541994.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1223Y |
XP_011540296.1 |
XM_011541996.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1194Y |
XP_011540298.1 |
XM_011541998.2 |
3152 |
Missense Mutation |
CAT,TAT |
H1176Y |
XP_011540300.1 |
XM_011542001.2 |
3152 |
UTR 3 |
|
|
XP_011540303.1 |
XM_017002123.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1193Y |
XP_016857612.1 |
XM_017002124.1 |
3152 |
Missense Mutation |
CAT,TAT |
H1004Y |
XP_016857613.1 |
XM_017002125.1 |
3152 |
UTR 3 |
|
|
XP_016857614.1 |
XM_017002126.1 |
3152 |
UTR 3 |
|
|
XP_016857615.1 |
XM_017002127.1 |
3152 |
Intron |
|
|
XP_016857616.1 |
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