Product Details

SNP ID

rs114256458

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:116719851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCTGGAATGCCACGGCTGCCCGG[C/T]TGAGGAAGCGCTCCAGGAGAAGTTG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C12orf49 PubMed Links

Gene Details

Gene

C12orf49

Gene Name

chromosome 12 open reading frame 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024738.2	616	Missense Mutation	AAC,AGC	N149S	NP_079014.1
XM_005253937.3	616	Missense Mutation	AAC,AGC	N119S	XP_005253994.1

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