Product Details

SNP ID

rs200073194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55289548 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCTGGTAAAGAAGGGGAGACTGA[C/T]GCCCAAGGAGGCCCGAAAGTTCTTC

Phenotype

MIM: 609235 MIM: 612939

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BRSK1 PubMed Links

Gene Details

Gene

BRSK1

Gene Name

BR serine/threonine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032430.1	663	Missense Mutation	ACG,ATG	T129M	NP_115806.1
XM_005259327.3	663	Missense Mutation	ACG,ATG	T39M	XP_005259384.1
XM_011527395.2	663	UTR 5			XP_011525697.2

Gene

HSPBP1

Gene Name

HSPA (Hsp70) binding protein 1

There are no transcripts associated with this gene.

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