Product Details

SNP ID

rs1057206

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:26122377 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGCGGGAACGGGGCGGCAGCCG[A/C]CGCCGGGTACAGATACTTCTCCAGG

Phenotype

MIM: 606200 MIM: 601599

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

BHLHE41 PubMed Links

Additional Information

For this assay, SNP(s) [rs140063083] 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

BHLHE41

Gene Name

basic helix-loop-helix family member e41

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030762.2	1429	Missense Mutation	GCG,TCG	A380S	NP_110389.1

Gene

SSPN

Gene Name

sarcospan

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135823.1	1429	Intron			NP_001129295.1
NM_005086.4	1429	Intron			NP_005077.2
XM_011520853.2	1429	Intron			XP_011519155.1
XM_011520854.2	1429	Intron			XP_011519156.1
XM_011520855.2	1429	Intron			XP_011519157.1

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