Product Details

SNP ID

rs12993324

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:73396225 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGTATTACATTAATTGATATTA[C/G]GTTATTAAACCAGCCTTGTGAAAAT

Phenotype

MIM: 606844

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ALMS1 PubMed Links

Gene Details

Gene

ALMS1

Gene Name

ALMS1, centrosome and basal body associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015120.4		Intron			NP_055935.4

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