Product Details

SNP ID

rs146672518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67631702 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCCTCCTTGATCCCTATCAGCC[C/T]GGATGTTGGGGAGGGGGTATGGTGC

Phenotype

MIM: 604648

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUDT8 PubMed Links

Gene Details

Gene

NUDT8

Gene Name

nudix hydrolase 8

There are no transcripts associated with this gene.

Gene

TBX10

Gene Name

T-box 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005995.4	1439	Missense Mutation	CAG,CGG	Q354R	NP_005986.2
XM_011544992.2	1439	Missense Mutation	CAG,CGG	Q399R	XP_011543294.1
XM_011544993.1	1439	Missense Mutation	CAG,CGG	Q193R	XP_011543295.1

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