Product Details

SNP ID

rs200190230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:100992434 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACTAAAGGTTTCCCCTTAGGGTA[C/G]ACATTGCTATTTAACTTTGCCTCCT

Phenotype

MIM: 615936

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARHGAP42 PubMed Links

Gene Details

Gene

ARHGAP42

Gene Name

Rho GTPase activating protein 42

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152432.2	355	Intron			NP_689645.2
XM_011542615.2	355	UTR 3			XP_011540917.1
XM_011542616.2	355	UTR 3			XP_011540918.1
XM_011542617.2	355	UTR 3			XP_011540919.1
XM_017017237.1	355	UTR 3			XP_016872726.1
XM_017017238.1	355	UTR 3			XP_016872727.1

Gene

TMEM133

Gene Name

transmembrane protein 133

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032021.2	355	Nonsense Mutation	TAC,TAG	Y42*	NP_114410.1

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