Product Details

SNP ID

rs148356487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:45006352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCAGGGGGCGGCGGGCTGAGGA[G/T]CAGTGCGGGGCTGGATGATGAGTGG

Phenotype

MIM: 604994

Polymorphism

G/T, 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	987	Missense Mutation	ATC,CTC	I232L	NP_058628.3
XM_005264100.3	987	Missense Mutation	ATC,CTC	I234L	XP_005264157.1

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