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SNP ID

rs200631708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:106761050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTTTGAAGGTTCACTTGAGTAGC[A/G]TAATCACAACATGGTCATCTCGGCC

Phenotype

MIM: 609747 MIM: 605609

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABRA PubMed Links

Gene Details

Gene

ABRA

Gene Name

actin binding Rho activating protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139166.4	1187	Missense Mutation	ACG,ATG	T378M	NP_631905.1

Gene

OXR1

Gene Name

oxidation resistance 1

There are no transcripts associated with this gene.

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