Product Details

SNP ID

rs149248943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:102076806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAACGGTACATTACCTGAATAAG[C/G]AGGCTCGATCCATGTGAACAGGTCT

Phenotype

MIM: 609264

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NUP37 PubMed Links

Gene Details

Gene

NUP37

Gene Name

nucleoporin 37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024057.3	911	Missense Mutation	TCC,TGC	S255C	NP_076962.2

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