Product Details

SNP ID

rs143757053

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46679113 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGAACTTGGTGAAGGTGTTGATG[A/G]GATTAATGGCCTTGAGGGTGATGGC

Phenotype

MIM: 602732 MIM: 615088

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP1 PubMed Links

Gene Details

Gene

ARHGAP1

Gene Name

Rho GTPase activating protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004308.3	1161	Missense Mutation	CCC,CTC	P415L	NP_004299.1
XM_011520095.1	1161	Missense Mutation	CCC,CTC	P415L	XP_011518397.1
XM_017017720.1	1161	Missense Mutation	CCC,CTC	P371L	XP_016873209.1

Gene

ATG13

Gene Name

autophagy related 13

There are no transcripts associated with this gene.

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