Product Details

SNP ID

rs112422303

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:225988042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCCCAGTGGGCTCCTCTTCTA[C/T]GGGTTCTTTACTCTCTGCCTTCTTC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SDE2 PubMed Links

Gene Details

Gene

SDE2

Gene Name

SDE2 telomere maintenance homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152608.3	1041	Missense Mutation	ATA,GTA	I330V	NP_689821.3

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