Product Details

SNP ID

rs201748590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47784972 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGAGGCACTCCATGAGACAAGA[A/G]CTTGTTGATTACACAGTGGTGATAC

Phenotype

MIM: 607614

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NUP160 PubMed Links

Gene Details

Gene

NUP160

Gene Name

nucleoporin 160

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318399.1	4064	Intron			NP_001305328.1
NM_015231.2	4064	Missense Mutation	CTC,TTC	L1314F	NP_056046.1

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