Product Details

SNP ID

rs144043142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:128051396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCATTTTTGAGAGTCCTGGGCTGT[A/G]GATGCCCAGCTGGTCAGGTGCAAAA

Phenotype

MIM: 300487

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTRT1 PubMed Links

Gene Details

Gene

ACTRT1

Gene Name

actin related protein T1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138289.3	1008	Missense Mutation	CAC,TAC	H271Y	NP_612146.1

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