Product Details

SNP ID

rs148452184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:85283701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAGAAGGGAGAGCTGGATGAAC[G/T]TGGGGATAAATGTGATAGCAATGTA

Phenotype

MIM: 601527

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ALX1 PubMed Links

Gene Details

Gene

ALX1

Gene Name

ALX homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006982.2	385	Missense Mutation	CGT,CTT	R119L	NP_008913.2
XM_011538782.2	385	Missense Mutation	CGT,CTT	R24L	XP_011537084.1

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