Product Details

SNP ID

rs73158973

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:135557955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTGCGCCTCTAAGATGGCGACGC[C/T]TTTGGCGGTAAATTCGGGTAAGTGT

Phenotype

MIM: 614352

Polymorphism

C/T, Transition 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	42	Missense Mutation	CCT,CTT	P4L	NP_055950.1
XM_005250235.3	42	Intron			XP_005250292.1

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