Product Details

SNP ID

rs117358775

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103912683 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATCTGGTTAGTGATGACCAGGAG[C/T]AGGCGCTGAAGCTTTTGAAAGAGAT

Phenotype

MIM: 604573

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C14orf2 PubMed Links

Gene Details

Gene

C14orf2

Gene Name

chromosome 14 open reading frame 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127393.1	257	Missense Mutation	ACT,GCT	T71A	NP_001120865.1
NM_004894.2	257	Missense Mutation	ACT,GCT	T54A	NP_004885.1

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