Product Details

SNP ID

rs151078855

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132823264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCCTTTTACCTGCTCATCAGGGT[C/G]GCTGTCTGAGGCCGCCCGGGCCAGG

Phenotype

MIM: 611179

Polymorphism

C/G, Transversion 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	2295	Missense Mutation	CAC,GAC	H738D	NP_001166171.1
NM_133456.2	2295	Missense Mutation	CAC,GAC	H738D	NP_597713.2
XM_005271885.4	2295	Missense Mutation	CAC,GAC	H738D	XP_005271942.1
XM_005271886.3	2295	Missense Mutation	CAC,GAC	H738D	XP_005271943.1
XM_006714534.3	2295	Intron			XP_006714597.1
XM_011543167.2	2295	Missense Mutation	CAC,GAC	H738D	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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