Product Details

SNP ID

rs200287647

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:45006459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCCATTCAGCGGGTTGTGGCTG[T/G]TAGAATTGGAGTTCTCGTTGTTCTC

Phenotype

MIM: 604994

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

SIX2 PubMed Links

Gene Details

Gene

SIX2

Gene Name

SIX homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016932.4	880	Missense Mutation			NP_058628.3
XM_005264100.3	880	Missense Mutation			XP_005264157.1

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