Product Details

SNP ID

rs144026779

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:96304640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAGAAGAAAATGGGAACCACCC[A/G]CAGAGCGTTCCTCATGGAGCTGGCC

Phenotype

MIM: 187410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNTT PubMed Links

Gene Details

Gene

DNTT

Gene Name

DNA nucleotidylexotransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017520.1	313	Missense Mutation	CAC,CGC	H48R	NP_001017520.1
NM_004088.3	313	Missense Mutation	CAC,CGC	H48R	NP_004079.3

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