Product Details

SNP ID

rs147983372

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:39105456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATCTCCCTGCCAGGGGTCTCAA[A/C]TGTAACTCGCGCTCCAACTGCTCTG

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SAYSD1 PubMed Links

Gene Details

Gene

SAYSD1

Gene Name

SAYSVFN motif domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304793.1	625	Missense Mutation	CAG,CAT	Q109H	NP_001291722.1
NM_018322.2	625	Missense Mutation	CAG,CAT	Q176H	NP_060792.1

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