Product Details

SNP ID

rs146227301

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:144397460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCAGGAAAGTAGCCATCCCCTCCT[A/G]GGGGATGCCCCAGAGCTTGTGGGCA

Phenotype

MIM: 610934

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOBOX PubMed Links

Gene Details

Gene

NOBOX

Gene Name

NOBOX oogenesis homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080413.3	1971	Missense Mutation	CCA,CTA	P619L	NP_001073882.3
XM_017011742.1	1971	Missense Mutation	CCA,CTA	P587L	XP_016867231.1

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