Product Details

SNP ID

rs115440539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:85280443 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGGACCCCTGCCCCGCGCCGAGC[A/G]TCACGTGCGCTTGGAGAGGACCTCG

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	186	Missense Mutation	CAT,CGT	H61R	NP_008913.2
XM_011538782.2	186	Intron			XP_011537084.1

Gene

LRRIQ1

Gene Name

leucine rich repeats and IQ motif containing 1

There are no transcripts associated with this gene.

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