Product Details

SNP ID
rs61747143
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23146672 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTGAGCCGCGACCGTGTCATCG[C/T]CAGCTTCCCTAAGGTAGAGAGTCAT
Phenotype
MIM: 605662 MIM: 605663
Polymorphism
C/T, 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_004914.3 306 Missense Mutation GCC,GTC A85V NP_004905.2
XM_005261859.4 306 Missense Mutation GCC,GTC A109V XP_005261916.1
XM_006724381.3 306 Missense Mutation GCC,GTC A109V XP_006724444.1
XM_006724382.3 306 Missense Mutation GCC,GTC A85V XP_006724445.1
XM_011530544.2 306 Missense Mutation GCC,GTC A109V XP_011528846.1
XM_011530545.2 306 Missense Mutation GCC,GTC A109V XP_011528847.1
XM_011530546.2 306 Missense Mutation GCC,GTC A109V XP_011528848.1
XM_011530547.2 306 Intron XP_011528849.1
XM_011530550.2 306 Missense Mutation GCC,GTC A109V XP_011528852.1
XM_011530552.2 306 Intron XP_011528854.1
XM_017029104.1 306 Intron XP_016884593.1
XM_017029105.1 306 Intron XP_016884594.1
XM_017029106.1 306 Intron XP_016884595.1
XM_017029107.1 306 Intron XP_016884596.1
Gene
RSPH14
Gene Name
radial spoke head 14 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014433.2 306 Intron NP_055248.1
XM_011530149.2 306 Intron XP_011528451.1
XM_011530150.1 306 Intron XP_011528452.1
XM_011530151.2 306 Intron XP_011528453.1
XM_011530152.2 306 Intron XP_011528454.1
XM_011530154.2 306 Intron XP_011528456.1
XM_011530155.2 306 Intron XP_011528457.1
XM_017028774.1 306 Intron XP_016884263.1

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