Product Details

SNP ID

rs74444948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:17602595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTTTTTTTAATTTACAGGCAGA[G/T]AATATGTTATTCCATCCTTGGCCCA

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FAM8A1 PubMed Links

Gene Details

Gene

FAM8A1

Gene Name

family with sequence similarity 8 member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016255.2	841	Nonsense Mutation	GAA,TAA	E240*	NP_057339.1

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