Product Details

SNP ID

rs138955257

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:39105569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCTTTCTTCTCTTCAGGGCCTC[A/G]TGTCCCGACGTACATCCAATAGAAC

Phenotype

Polymorphism

A/G, Transition 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	512	Nonsense Mutation	CGA,TGA	R72*	NP_001291722.1
NM_018322.2	512	Nonsense Mutation	CGA,TGA	R139*	NP_060792.1

View Full Product Details