Product Details

SNP ID

rs140763514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:45006282 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCCGCCTGGCACCGGCACTGGC[A/G]CTGCGCTGGGGCCCGGAGGGTGGCC

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	1057	Missense Mutation	GCG,GTG	A255V	NP_058628.3
XM_005264100.3	1057	Missense Mutation	GCG,GTG	A257V	XP_005264157.1

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