Product Details

SNP ID

rs200859196

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:60509558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCTCAACAAGAATGAGTCGGTG[C/G]TACGCGCACGAGCCATCGTGGCCTT

Phenotype

MIM: 606326

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C14orf39 PubMed Links

Gene Details

Gene

C14orf39

Gene Name

chromosome 14 open reading frame 39

There are no transcripts associated with this gene.

Gene

SIX6

Gene Name

SIX homeobox 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007374.2	339	Missense Mutation	CTA,GTA	L54V	NP_031400.2

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