Product Details

SNP ID

rs143323460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:45006342 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGACGGCAGCCCAGGGGGCGGC[A/G]GGCTGAGGAGCAGTGCGGGGCTGGA

Phenotype

MIM: 604994

Polymorphism

A/G, 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	997	Missense Mutation	CCG,CTG	P235L	NP_058628.3
XM_005264100.3	997	Missense Mutation	CCG,CTG	P237L	XP_005264157.1

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