Product Details

SNP ID

rs180767274

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:25161605 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCTGCGCCGCTGCTGCCGCTGC[C/T]GCTGCTGTTGCGGCGGCCGAATCGG

Phenotype

MIM: 616797 MIM: 176830

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EFR3B PubMed Links

Additional Information

For this assay, SNP(s) [rs201517327,rs28930368] 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	684	Missense Mutation	AGC,GGC	S94G	NP_000930.1
NM_001035256.2	684	Missense Mutation	AGC,GGC	S94G	NP_001030333.1
NM_001319204.1	684	Missense Mutation	AGC,GGC	S94G	NP_001306133.1
NM_001319205.1	684	Missense Mutation	AGC,GGC	S94G	NP_001306134.1

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