Product Details

SNP ID

rs200894457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:70288500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGTCAACTCATTGTTGTAGTCC[A/G]GGTGGTGTACCCTCTGCAAGACACA

Phenotype

MIM: 301770 MIM: 300521 MIM: 300632

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARR3 PubMed Links

Gene Details

Gene

ARR3

Gene Name

arrestin 3

There are no transcripts associated with this gene.

Gene

KIF4A

Gene Name

kinesin family member 4A

There are no transcripts associated with this gene.

Gene

PDZD11

Gene Name

PDZ domain containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016484.4	534	Missense Mutation	CCG,CTG	P34L	NP_057568.1
XM_011530973.2	534	Missense Mutation	CCG,CTG	P34L	XP_011529275.1
XM_017029568.1	534	Missense Mutation	CCG,CTG	P66L	XP_016885057.1

Gene

RAB41

Gene Name

RAB41, member RAS oncogene family

There are no transcripts associated with this gene.

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