Product Details

SNP ID

rs199571596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132823088 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTTCAGCTCCTTGGCGTCCTCC[C/T]CCTGCCGCTGCAGGAGCCGGAGTCG

Phenotype

MIM: 611179

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC107984115 PubMed Links

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	2350	Missense Mutation	GAG,GGG	E756G	NP_001166171.1
NM_133456.2	2350	Missense Mutation	GAG,GGG	E751G	NP_597713.2
XM_005271885.4	2350	Missense Mutation	GAG,GGG	E756G	XP_005271942.1
XM_005271886.3	2350	Missense Mutation	GAG,GGG	E756G	XP_005271943.1
XM_006714534.3	2350	Intron			XP_006714597.1
XM_011543167.2	2350	Missense Mutation	GAG,GGG	E756G	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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