Product Details

SNP ID

rs201420637

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:10142319 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAAAGGGAATCCCCTGCTTCTGC[A/G]TGTCAGGTGTTACTCGGGGTGCGCC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C2orf48 PubMed Links

Gene Details

Gene

C2orf48

Gene Name

chromosome 2 open reading frame 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182626.3	426	Missense Mutation	CAT,CGT	H46R	NP_872432.1

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