Product Details

SNP ID

rs201196772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:135571137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTATGGGGTCCTTACAAAGACATT[G/T]GGCATAAAGTGGGAAATGCTCTTTG

Phenotype

MIM: 614352

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NUP205 PubMed Links

Gene Details

Gene

NUP205

Gene Name

nucleoporin 205

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015135.2	92	Missense Mutation	GGG,TGG	G21W	NP_055950.1
XM_005250235.3	92	UTR 5			XP_005250292.1

View Full Product Details