Product Details
- SNP ID
-
rs187153200
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:81262037 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCTAACCTCTGCAGTCTTGATGAA[A/G]CAACTGCAAATGGAGAAAAGGGCTT
- Phenotype
-
MIM: 614356
MIM: 603143
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACSS3
PubMed Links
Gene Details
- Gene
- ACSS3
- Gene Name
- acyl-CoA synthetase short-chain family member 3
There are no transcripts associated with this gene.
- Gene
- PPFIA2
- Gene Name
- PTPRF interacting protein alpha 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001220473.2 |
4253 |
Intron |
|
|
NP_001207402.1 |
NM_001220474.2 |
4253 |
Intron |
|
|
NP_001207403.1 |
NM_001220475.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1219V |
NP_001207404.1 |
NM_001220476.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1234V |
NP_001207405.1 |
NM_001220477.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1139V |
NP_001207406.1 |
NM_001220478.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1135V |
NP_001207407.1 |
NM_001220479.2 |
4253 |
Intron |
|
|
NP_001207408.1 |
NM_001220480.2 |
4253 |
Missense Mutation |
GCT,GTT |
A426V |
NP_001207409.1 |
NM_001282536.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1087V |
NP_001269465.1 |
NM_003625.4 |
4253 |
Missense Mutation |
GCT,GTT |
A1240V |
NP_003616.2 |
XM_006719670.3 |
4253 |
Missense Mutation |
GCT,GTT |
A1169V |
XP_006719733.1 |
XM_011538906.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1185V |
XP_011537208.1 |
XM_011538907.2 |
4253 |
Missense Mutation |
GCT,GTT |
A1216V |
XP_011537209.1 |
XM_017020079.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1243V |
XP_016875568.1 |
XM_017020080.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1240V |
XP_016875569.1 |
XM_017020081.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1237V |
XP_016875570.1 |
XM_017020082.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1234V |
XP_016875571.1 |
XM_017020083.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1233V |
XP_016875572.1 |
XM_017020084.1 |
4253 |
Intron |
|
|
XP_016875573.1 |
XM_017020085.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1230V |
XP_016875574.1 |
XM_017020086.1 |
4253 |
Intron |
|
|
XP_016875575.1 |
XM_017020087.1 |
4253 |
Intron |
|
|
XP_016875576.1 |
XM_017020088.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1225V |
XP_016875577.1 |
XM_017020089.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1225V |
XP_016875578.1 |
XM_017020090.1 |
4253 |
Intron |
|
|
XP_016875579.1 |
XM_017020091.1 |
4253 |
Intron |
|
|
XP_016875580.1 |
XM_017020092.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1222V |
XP_016875581.1 |
XM_017020093.1 |
4253 |
Intron |
|
|
XP_016875582.1 |
XM_017020094.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1218V |
XP_016875583.1 |
XM_017020095.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1216V |
XP_016875584.1 |
XM_017020096.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1215V |
XP_016875585.1 |
XM_017020097.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1213V |
XP_016875586.1 |
XM_017020098.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1212V |
XP_016875587.1 |
XM_017020099.1 |
4253 |
Intron |
|
|
XP_016875588.1 |
XM_017020100.1 |
4253 |
Intron |
|
|
XP_016875589.1 |
XM_017020101.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1209V |
XP_016875590.1 |
XM_017020102.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1209V |
XP_016875591.1 |
XM_017020103.1 |
4253 |
Intron |
|
|
XP_016875592.1 |
XM_017020104.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1206V |
XP_016875593.1 |
XM_017020105.1 |
4253 |
Intron |
|
|
XP_016875594.1 |
XM_017020106.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1203V |
XP_016875595.1 |
XM_017020107.1 |
4253 |
Intron |
|
|
XP_016875596.1 |
XM_017020108.1 |
4253 |
Intron |
|
|
XP_016875597.1 |
XM_017020109.1 |
4253 |
Intron |
|
|
XP_016875598.1 |
XM_017020110.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1197V |
XP_016875599.1 |
XM_017020111.1 |
4253 |
Intron |
|
|
XP_016875600.1 |
XM_017020112.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1166V |
XP_016875601.1 |
XM_017020113.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1160V |
XP_016875602.1 |
XM_017020114.1 |
4253 |
Intron |
|
|
XP_016875603.1 |
XM_017020115.1 |
4253 |
Intron |
|
|
XP_016875604.1 |
XM_017020116.1 |
4253 |
Intron |
|
|
XP_016875605.1 |
XM_017020117.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1144V |
XP_016875606.1 |
XM_017020118.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1143V |
XP_016875607.1 |
XM_017020119.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1145V |
XP_016875608.1 |
XM_017020120.1 |
4253 |
Missense Mutation |
GCT,GTT |
A1090V |
XP_016875609.1 |
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