Product Details

SNP ID

rs515552

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:100992365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACATCTCCTGGTCAGGTCACGA[G/A]AAAGAACACAGGCTTGACTATTGTC

Phenotype

MIM: 615936

Polymorphism

G/A, Transition 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	286	Intron			NP_689645.2
XM_011542615.2	286	UTR 3			XP_011540917.1
XM_011542616.2	286	UTR 3			XP_011540918.1
XM_011542617.2	286	UTR 3			XP_011540919.1
XM_017017237.1	286	UTR 3			XP_016872726.1
XM_017017238.1	286	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	286	Silent Mutation	GAA,GAG	E19E	NP_114410.1

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