Product Details

SNP ID

rs139785219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23145469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCGTGTAGCCCGCAGGTCCCGCG[A/T]GGCTCTCGTTGCCATGGTGATCGCC

Phenotype

MIM: 605662 MIM: 605663

Polymorphism

A/T, Transversion 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	161	Missense Mutation	GAG,GTG	E35V	NP_004905.2
XM_005261859.4	161	Missense Mutation	GAG,GTG	E35V	XP_005261916.1
XM_006724381.3	161	Missense Mutation	GAG,GTG	E35V	XP_006724444.1
XM_006724382.3	161	Missense Mutation	GAG,GTG	E35V	XP_006724445.1
XM_011530544.2	161	Missense Mutation	GAG,GTG	E35V	XP_011528846.1
XM_011530545.2	161	Missense Mutation	GAG,GTG	E35V	XP_011528847.1
XM_011530546.2	161	Missense Mutation	GAG,GTG	E35V	XP_011528848.1
XM_011530547.2	161	Missense Mutation	GAG,GTG	E35V	XP_011528849.1
XM_011530550.2	161	Missense Mutation	GAG,GTG	E35V	XP_011528852.1
XM_011530552.2	161	Intron			XP_011528854.1
XM_017029104.1	161	Missense Mutation	GAG,GTG	E35V	XP_016884593.1
XM_017029105.1	161	Missense Mutation	GAG,GTG	E35V	XP_016884594.1
XM_017029106.1	161	Intron			XP_016884595.1
XM_017029107.1	161	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	161	Intron			NP_055248.1
XM_011530149.2	161	Intron			XP_011528451.1
XM_011530150.1	161	Intron			XP_011528452.1
XM_011530151.2	161	Intron			XP_011528453.1
XM_011530152.2	161	Intron			XP_011528454.1
XM_011530154.2	161	Intron			XP_011528456.1
XM_011530155.2	161	Intron			XP_011528457.1
XM_017028774.1	161	Intron			XP_016884263.1

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