Product Details

SNP ID

rs76413544

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:25161303 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGCCCCTGCGCCGTCATCGGC[C/A]GGGCCGTCGGGGCCATCTCCCTCCC

Phenotype

MIM: 616797 MIM: 176830

Polymorphism

C/A, Transversion Substitution

Allele Nomenclature

Literature Links

EFR3B PubMed Links

Additional Information

For this assay, SNP(s) [rs2071345] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EFR3B

Gene Name

EFR3 homolog B

There are no transcripts associated with this gene.

Gene

POMC

Gene Name

proopiomelanocortin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000939.3	986	Silent Mutation	CCG,CCT	P194P	NP_000930.1
NM_001035256.2	986	Silent Mutation	CCG,CCT	P194P	NP_001030333.1
NM_001319204.1	986	Silent Mutation	CCG,CCT	P194P	NP_001306133.1
NM_001319205.1	986	Silent Mutation	CCG,CCT	P194P	NP_001306134.1

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