Product Details

SNP ID

rs199961649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:31293573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGAATTTTCATCCAAAAGGAAG[A/G]AAATGAGGATGGGCAAAAGACAGGC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HEATR5A PubMed Links

Gene Details

Gene

HEATR5A

Gene Name

HEAT repeat containing 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015473.3	6058	Missense Mutation	TCC,TTC	S1958F	NP_056288.2

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