Product Details

SNP ID

rs149012399

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132823445 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCGCTTGGCGCCTGGCCCACGC[C/T]TGTGCCTCCCCCTGCAGCCGCTCCT

Phenotype

MIM: 611179

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LOC107984115 PubMed Links

Additional Information

For this assay, SNP(s) [rs4705870] 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

LOC107984115

Gene Name

laforin-like

There are no transcripts associated with this gene.

Gene

SHROOM1

Gene Name

shroom family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172700.1	2114	Silent Mutation	CAA,CAG	Q677Q	NP_001166171.1
NM_133456.2	2114	Silent Mutation	CAA,CAG	Q677Q	NP_597713.2
XM_005271885.4	2114	Silent Mutation	CAA,CAG	Q677Q	XP_005271942.1
XM_005271886.3	2114	Silent Mutation	CAA,CAG	Q677Q	XP_005271943.1
XM_006714534.3	2114	Intron			XP_006714597.1
XM_011543167.2	2114	Silent Mutation	CAA,CAG	Q677Q	XP_011541469.1

Gene

SOWAHA

Gene Name

sosondowah ankyrin repeat domain family member A

There are no transcripts associated with this gene.

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