Product Details

SNP ID

rs201235545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38596386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGAAGAGCACCGACTTCCCCGGC[C/T]GCCCGGGGCTCACGCCGATGCACAC

Phenotype

MIM: 601983 MIM: 180901

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC105372397 PubMed Links

Gene Details

Gene

LOC105372397

Gene Name

uncharacterized LOC105372397

There are no transcripts associated with this gene.

Gene

MAP4K1

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042600.2	2182	Missense Mutation	CAG,CGG	Q681R	NP_001036065.1
NM_007181.5	2182	Missense Mutation	CAG,CGG	Q681R	NP_009112.1
XM_011526403.1	2182	Missense Mutation	CAG,CGG	Q721R	XP_011524705.1
XM_011526404.1	2182	Missense Mutation	CAG,CGG	Q721R	XP_011524706.1
XM_017026231.1	2182	Missense Mutation	CAG,CGG	Q708R	XP_016881720.1

Gene

RYR1

Gene Name

ryanodine receptor 1

There are no transcripts associated with this gene.

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