Product Details

SNP ID

rs140729217

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:13715046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGTTCTTTCCGTTCTCTTTGC[C/T]GGGCCTTCTCCTCAAGGATTTTTTC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ESF1 PubMed Links

Gene Details

Gene

ESF1

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276380.1	3944	Missense Mutation	CAG,CGG	Q795R	NP_001263309.1
NM_016649.3	3944	Missense Mutation	CAG,CGG	Q795R	NP_057733.2
XM_017027874.1	3944	Missense Mutation	CAG,CGG	Q795R	XP_016883363.1

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