Product Details

SNP ID

rs142270062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:108044801 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTAGGTCTCAGTTTGAATTTTCC[G/T]GAATATTTGCAAAACTGGTACTGGA

Phenotype

MIM: 607649

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

OSTM1 PubMed Links

Gene Details

Gene

OSTM1

Gene Name

osteopetrosis associated transmembrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014028.3	1075	Missense Mutation	CAG,CCG	Q330P	NP_054747.2

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