Product Details
- SNP ID
-
rs199868020
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:134256645 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCAAATATGGCAGAGTGGGACCA[A/G]AAGGTAGGCGTTTTTCTTGTGCTTA
- Phenotype
-
MIM: 604773
MIM: 613739
MIM: 610027
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACAD8
PubMed Links
Gene Details
- Gene
- ACAD8
- Gene Name
- acyl-CoA dehydrogenase family member 8
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_014384.2 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
NP_055199.1 |
XM_005271505.3 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_005271562.1 |
XM_011542750.2 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_011541052.1 |
XM_017017542.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873031.1 |
XM_017017543.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873032.1 |
XM_017017544.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873033.1 |
XM_017017545.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873034.1 |
XM_017017546.1 |
276 |
Missense Mutation |
AAA,AGA |
K28R |
XP_016873035.1 |
XM_017017547.1 |
276 |
Missense Mutation |
AAA,AGA |
K28R |
XP_016873036.1 |
XM_017017548.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873037.1 |
XM_017017549.1 |
276 |
Silent Mutation |
CAA,CAG |
Q69Q |
XP_016873038.1 |
- Gene
- THYN1
- Gene Name
- thymocyte nuclear protein 1
There are no transcripts associated with this gene.
- Gene
- VPS26B
- Gene Name
- VPS26, retromer complex component B
There are no transcripts associated with this gene.
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