Product Details

SNP ID

rs144595028

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:11143886 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAACATCAAATAAGGGAGAGAC[A/G]AAGAGAAGGTCCGAAGAGCCCCACA

Phenotype

MIM: 300118

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP6 PubMed Links

Gene Details

Gene

ARHGAP6

Gene Name

Rho GTPase activating protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287242.1	3143	Intron			NP_001274171.1
NM_006125.2	3143	Missense Mutation	TCG,TTG	S757L	NP_006116.2
NM_013423.2	3143	Intron			NP_038267.1
NM_013427.2	3143	Intron			NP_038286.2

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