Product Details

SNP ID

rs200606790

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10320668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCACTCACCGAGGGGTAGTCG[A/G]AGCTGTAGCTGTCAGACAGTCCTGG

Phenotype

MIM: 614585 MIM: 609950

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FDX1L PubMed Links

Gene Details

Gene

FDX1L

Gene Name

ferredoxin 1 like

There are no transcripts associated with this gene.

Gene

RAVER1

Gene Name

ribonucleoprotein, PTB binding 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133452.2	1888	Missense Mutation	TCC,TTC	S603F	NP_597709.2
XM_011527671.1	1888	Missense Mutation	TCC,TTC	S578F	XP_011525973.1

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