Product Details

SNP ID

rs45549246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:60511125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCACAGGGTTCCGGGCGGGCAC[G/T]ACGGGCGGAGGGCGACGGCACGCCA

Phenotype

MIM: 606326

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SIX6 PubMed Links

Gene Details

Gene

SIX6

Gene Name

SIX homeobox 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007374.2	793	Missense Mutation	CGA,CTA	R205L	NP_031400.2

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