Product Details

SNP ID

rs148463493

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:1091749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGACATGGATGTGACTTCCCAAGC[C/G]CGGGGCGTGGGCCTGGAGATGTACC

Phenotype

MIM: 601805

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

C7orf50 PubMed Links

Additional Information

For this assay, SNP(s) [rs11544331,rs3802141] are located under a primer 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

C7orf50

Gene Name

chromosome 7 open reading frame 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134395.1	781	Intron			NP_001127867.1
NM_001134396.1	781	Intron			NP_001127868.1
NM_001318252.1	781	Intron			NP_001305181.1
NM_032350.5	781	Intron			NP_115726.1
XM_006715793.2	781	Intron			XP_006715856.1
XM_011515580.2	781	Intron			XP_011513882.1
XM_011515581.2	781	Intron			XP_011513883.1
XM_011515582.2	781	Intron			XP_011513884.1
XM_011515583.2	781	Intron			XP_011513885.1
XM_011515584.2	781	Intron			XP_011513886.1
XM_017012719.1	781	Intron			XP_016868208.1
XM_017012720.1	781	Intron			XP_016868209.1
XM_017012721.1	781	Intron			XP_016868210.1
XM_017012722.1	781	Intron			XP_016868211.1

Gene

GPER1

Gene Name

G protein-coupled estrogen receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039966.1	781	Silent Mutation	GCC,GCG	A7A	NP_001035055.1
NM_001098201.1	781	Silent Mutation	GCC,GCG	A7A	NP_001091671.1
NM_001505.2	781	Silent Mutation	GCC,GCG	A7A	NP_001496.1

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