Product Details
- SNP ID
-
rs142523771
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:127942049 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCAATTTGGACACTTTTTTGACA[A/G]TCCCGTTCTTGTTAAGCAGCTTCAG
- Phenotype
-
MIM: 609697
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
SAP130
PubMed Links
Gene Details
- Gene
- SAP130
- Gene Name
- Sin3A associated protein 130
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001145928.1 |
3212 |
Missense Mutation |
ACT,ATT |
T1070I |
NP_001139400.1 |
NM_024545.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1035I |
NP_078821.2 |
XM_005263767.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1069I |
XP_005263824.1 |
XM_005263768.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1044I |
XP_005263825.1 |
XM_005263769.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1044I |
XP_005263826.1 |
XM_005263770.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1043I |
XP_005263827.1 |
XM_006712748.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1069I |
XP_006712811.1 |
XM_006712749.3 |
3212 |
Missense Mutation |
ACT,ATT |
T1034I |
XP_006712812.1 |
XM_017004903.1 |
3212 |
Missense Mutation |
ACT,ATT |
T1043I |
XP_016860392.1 |
XM_017004904.1 |
3212 |
Missense Mutation |
ACT,ATT |
T1009I |
XP_016860393.1 |
XM_017004905.1 |
3212 |
Missense Mutation |
ACT,ATT |
T1008I |
XP_016860394.1 |
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