Product Details
- SNP ID
-
rs143938419
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:20936836 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCGGCCAAGATTGATGAGGCTCCTC[C/T]GAACCACTTTGGTCAGCCTGCAAGA
- Phenotype
-
MIM: 603334
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DNAH3
PubMed Links
Gene Details
- Gene
- DNAH3
- Gene Name
- dynein axonemal heavy chain 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_017539.2 |
12250 |
Missense Mutation |
CAG,CGG |
Q3891R |
NP_060009.1 |
| XM_006721062.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3845R |
XP_006721125.1 |
| XM_011545882.2 |
12250 |
Missense Mutation |
CAG,CGG |
Q3852R |
XP_011544184.1 |
| XM_011545883.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3852R |
XP_011544185.1 |
| XM_011545885.2 |
12250 |
Intron |
|
|
XP_011544187.1 |
| XM_011545886.2 |
12250 |
Missense Mutation |
CAG,CGG |
Q3515R |
XP_011544188.1 |
| XM_011545888.2 |
12250 |
Missense Mutation |
CAG,CGG |
Q2986R |
XP_011544190.1 |
| XM_011545889.2 |
12250 |
Missense Mutation |
CAG,CGG |
Q2986R |
XP_011544191.1 |
| XM_017023426.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3807R |
XP_016878915.1 |
| XM_017023427.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3771R |
XP_016878916.1 |
| XM_017023428.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3659R |
XP_016878917.1 |
| XM_017023429.1 |
12250 |
Intron |
|
|
XP_016878918.1 |
| XM_017023430.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q1870R |
XP_016878919.1 |
| XM_017023431.1 |
12250 |
Intron |
|
|
XP_016878920.1 |
| XM_017023432.1 |
12250 |
Missense Mutation |
CAG,CGG |
Q3905R |
XP_016878921.1 |
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