Product Details

SNP ID

rs148475750

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:163326152 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATGGTAAAAACCTCACCAAGA[A/T]TGATCTTTATCCAAATCCAAAGGTA

Phenotype

MIM: 611772 MIM: 603276

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NUF2 PubMed Links

Gene Details

Gene

NUF2

Gene Name

NUF2, NDC80 kinetochore complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031423.3	401	Missense Mutation	AAT,ATT	N34I	NP_113611.2
NM_145697.2	401	Missense Mutation	AAT,ATT	N34I	NP_663735.2
XM_011510036.1	401	UTR 5			XP_011508338.1

Gene

RGS5

Gene Name

regulator of G-protein signaling 5

There are no transcripts associated with this gene.

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