Product Details

SNP ID

rs201240001

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67628978 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCTCGGGCACTGCCAGGCCCA[C/G]CTCCTCCCGGGTTTCCCGCAGGGCC

Phenotype

MIM: 604648

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NUDT8 PubMed Links

Gene Details

Gene

NUDT8

Gene Name

nudix hydrolase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243750.1	294	Missense Mutation	CTG,GTG	L90V	NP_001230679.1
NM_181843.2	294	Missense Mutation	CTG,GTG	L90V	NP_862826.1
XM_017017474.1	294	Missense Mutation	CTG,GTG	L90V	XP_016872963.1

Gene

TBX10

Gene Name

T-box 10

There are no transcripts associated with this gene.

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