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SNP ID

rs200290108

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102484173 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGCACTTACTTCTTTTATGGCC[C/T]TGACAATCTCAAACTCAGAGGATGA

Phenotype

MIM: 605143

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTR1A PubMed Links

Gene Details

Gene

ACTR1A

Gene Name

ARP1 actin-related protein 1 homolog A, centractin alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005736.3	752	Missense Mutation	AAG,AGG	K215R	NP_005727.1

Gene

MFSD13A

Gene Name

major facilitator superfamily domain containing 13A

There are no transcripts associated with this gene.

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