Product Details

SNP ID

rs77677767

Assay Type

Functionally tested

NCBI dbSNP Submissions

19

Location

Chr.1:229449164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTTTGCAAAGGATTTCCAGTTT[C/T]AGATCATTTATATTTATATCTTCTT

Phenotype

MIM: 607613

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUP133 PubMed Links

Gene Details

Gene

NUP133

Gene Name

nucleoporin 133

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018230.2	3299	Silent Mutation	CTA,CTG	L1069L	NP_060700.2

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