Product Details

SNP ID

rs1537044

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:161072867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGTGGTCAGCGTGGAGTAACTGC[A/G]GCCCTCGGGCTCTTCACTCTGGAGA

Phenotype

MIM: 614264 MIM: 609607

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP30 PubMed Links

Gene Details

Gene

ARHGAP30

Gene Name

Rho GTPase activating protein 30

There are no transcripts associated with this gene.

Gene

NECTIN4

Gene Name

nectin cell adhesion molecule 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030916.2	1522	Missense Mutation	CGC,TGC	R443C	NP_112178.2
XM_005245508.3	1522	Missense Mutation	CGC,TGC	R418C	XP_005245565.1
XM_011510021.2	1522	Missense Mutation	CGC,TGC	R444C	XP_011508323.1
XM_011510022.2	1522	Missense Mutation	CGC,TGC	R419C	XP_011508324.1
XM_011510023.1	1522	UTR 3			XP_011508325.1

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