Product Details

SNP ID

rs199560829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:45006397 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGGTCTGGCGTCCCCGATGGAG[C/T]CTTCTCATCCTCCGAGCTGCCTAAC

Phenotype

MIM: 604994

Polymorphism

C/T, Transition 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	942	Missense Mutation	ACT,GCT	T217A	NP_058628.3
XM_005264100.3	942	Missense Mutation	ACT,GCT	T219A	XP_005264157.1

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