Product Details
- SNP ID
-
rs142413216
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:91220842 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCTCTCGCCAGGTCCAAGGCCTTC[C/T]TGTAGGCCGCGTCTCCCTCCTGGTT
- Phenotype
-
MIM: 600529
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AUH
PubMed Links
Gene Details
- Gene
- AUH
- Gene Name
- AU RNA binding protein/enoyl-CoA hydratase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001306190.1 |
910 |
Missense Mutation |
AAG,AGG |
K240R |
NP_001293119.1 |
NM_001698.2 |
910 |
Missense Mutation |
AAG,AGG |
K269R |
NP_001689.1 |
XM_005252066.3 |
910 |
Missense Mutation |
AAG,AGG |
K279R |
XP_005252123.1 |
XM_005252067.4 |
910 |
Missense Mutation |
AAG,AGG |
K279R |
XP_005252124.1 |
XM_005252069.4 |
910 |
Missense Mutation |
AAG,AGG |
K279R |
XP_005252126.1 |
XM_005252072.2 |
910 |
Intron |
|
|
XP_005252129.1 |
XM_006717150.3 |
910 |
Missense Mutation |
AAG,AGG |
K250R |
XP_006717213.1 |
XM_011518800.2 |
910 |
Intron |
|
|
XP_011517102.1 |
XM_011518802.2 |
910 |
Missense Mutation |
AAG,AGG |
K160R |
XP_011517104.1 |
XM_011518803.2 |
910 |
Intron |
|
|
XP_011517105.1 |
XM_011518804.2 |
910 |
Intron |
|
|
XP_011517106.1 |
XM_017014849.1 |
910 |
Missense Mutation |
AAG,AGG |
K269R |
XP_016870338.1 |
XM_017014850.1 |
910 |
Missense Mutation |
AAG,AGG |
K160R |
XP_016870339.1 |
XM_017014851.1 |
910 |
Missense Mutation |
AAG,AGG |
K160R |
XP_016870340.1 |
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