Product Details

SNP ID

rs139248550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:96304628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGTCTTCATTTTGGAGAAGAAAA[C/T]GGGAACCACCCGCAGAGCGTTCCTC

Phenotype

MIM: 187410

Polymorphism

C/T, 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	301	Missense Mutation	ACG,ATG	T44M	NP_001017520.1
NM_004088.3	301	Missense Mutation	ACG,ATG	T44M	NP_004079.3

View Full Product Details