Product Details

SNP ID

rs9624036

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23145514 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCGCCGCCGCTGGCTCAGGCGGAC[C/T]AGGCCGCGCGGAGCCCCAGCTTTCA

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	206	Missense Mutation	CCA,CTA	P50L	NP_004905.2
XM_005261859.4	206	Missense Mutation	CCA,CTA	P50L	XP_005261916.1
XM_006724381.3	206	Missense Mutation	CCA,CTA	P50L	XP_006724444.1
XM_006724382.3	206	Missense Mutation	CCA,CTA	P50L	XP_006724445.1
XM_011530544.2	206	Missense Mutation	CCA,CTA	P50L	XP_011528846.1
XM_011530545.2	206	Missense Mutation	CCA,CTA	P50L	XP_011528847.1
XM_011530546.2	206	Missense Mutation	CCA,CTA	P50L	XP_011528848.1
XM_011530547.2	206	Missense Mutation	CCA,CTA	P50L	XP_011528849.1
XM_011530550.2	206	Missense Mutation	CCA,CTA	P50L	XP_011528852.1
XM_011530552.2	206	Intron			XP_011528854.1
XM_017029104.1	206	Missense Mutation	CCA,CTA	P50L	XP_016884593.1
XM_017029105.1	206	Missense Mutation	CCA,CTA	P50L	XP_016884594.1
XM_017029106.1	206	Intron			XP_016884595.1
XM_017029107.1	206	UTR 5			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	206	Intron			NP_055248.1
XM_011530149.2	206	Intron			XP_011528451.1
XM_011530150.1	206	Intron			XP_011528452.1
XM_011530151.2	206	Intron			XP_011528453.1
XM_011530152.2	206	Intron			XP_011528454.1
XM_011530154.2	206	Intron			XP_011528456.1
XM_011530155.2	206	Intron			XP_011528457.1
XM_017028774.1	206	Intron			XP_016884263.1

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