Product Details

SNP ID

rs75478848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:85283611 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTAAAGTAGAAGGACAGCCCCTTC[A/G]CACCGAACTGAATAGAGCTATGGAC

Phenotype

MIM: 601527

Polymorphism

A/G, Transition 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	295	Missense Mutation	CAC,CGC	H89R	NP_008913.2
XM_011538782.2	295	UTR 5			XP_011537084.1

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