Product Details

SNP ID
rs144444349
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23146656 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCTTTGGGGCCCCCTGTGAGC[C/T]GCGACCGTGTCATCGCCAGCTTCCC
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_004914.3 290 Missense Mutation CGC,TGC R80C NP_004905.2
XM_005261859.4 290 Missense Mutation CGC,TGC R104C XP_005261916.1
XM_006724381.3 290 Missense Mutation CGC,TGC R104C XP_006724444.1
XM_006724382.3 290 Missense Mutation CGC,TGC R80C XP_006724445.1
XM_011530544.2 290 Missense Mutation CGC,TGC R104C XP_011528846.1
XM_011530545.2 290 Missense Mutation CGC,TGC R104C XP_011528847.1
XM_011530546.2 290 Missense Mutation CGC,TGC R104C XP_011528848.1
XM_011530547.2 290 Intron XP_011528849.1
XM_011530550.2 290 Missense Mutation CGC,TGC R104C XP_011528852.1
XM_011530552.2 290 Intron XP_011528854.1
XM_017029104.1 290 Intron XP_016884593.1
XM_017029105.1 290 Intron XP_016884594.1
XM_017029106.1 290 Intron XP_016884595.1
XM_017029107.1 290 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_014433.2 290 Intron NP_055248.1
XM_011530149.2 290 Intron XP_011528451.1
XM_011530150.1 290 Intron XP_011528452.1
XM_011530151.2 290 Intron XP_011528453.1
XM_011530152.2 290 Intron XP_011528454.1
XM_011530154.2 290 Intron XP_011528456.1
XM_011530155.2 290 Intron XP_011528457.1
XM_017028774.1 290 Intron XP_016884263.1

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