Product Details

SNP ID
rs111713621
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:70283984 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGAACAGGGTGAAGAAAAATCC[A/G]GAAACCTCAATGTGATGTTTATTGA
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
There are no transcripts associated with this gene.

Gene
RAB41
Gene Name
RAB41, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032726.2 1730 Missense Mutation AGA,GGA R163G NP_001027898.2
XM_011530948.2 1730 Missense Mutation AGA,GGA R164G XP_011529250.1
XM_017029488.1 1730 Missense Mutation AGA,GGA R164G XP_016884977.1

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