Product Details
- SNP ID
-
rs137867464
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:23145388 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTATGGTGATCGCCGGTGCAAGCT[A/G]GATGCTTGGACGCGCCGCTGCCAGT
- Phenotype
-
MIM: 605662
MIM: 605663
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
RAB36
PubMed Links
Gene Details
- Gene
- RAB36
- Gene Name
- RAB36, member RAS oncogene family
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_004914.3 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
NP_004905.2 |
XM_005261859.4 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_005261916.1 |
XM_006724381.3 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_006724444.1 |
XM_006724382.3 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_006724445.1 |
XM_011530544.2 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_011528846.1 |
XM_011530545.2 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_011528847.1 |
XM_011530546.2 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_011528848.1 |
XM_011530547.2 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_011528849.1 |
XM_011530550.2 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_011528852.1 |
XM_011530552.2 |
80 |
Intron |
|
|
XP_011528854.1 |
XM_017029104.1 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_016884593.1 |
XM_017029105.1 |
80 |
Nonsense Mutation |
TAG,TGG |
*8W |
XP_016884594.1 |
XM_017029106.1 |
80 |
Intron |
|
|
XP_016884595.1 |
XM_017029107.1 |
80 |
Intron |
|
|
XP_016884596.1 |
- Gene
- RSPH14
- Gene Name
- radial spoke head 14 homolog
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