Product Details

SNP ID

rs201475657

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55313008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGCAGCATGGCCACGACCCACT[C/T]GCAGGCCGCAGAGACGCTACGCAGC

Phenotype

MIM: 609235

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	775	Intron			NP_115806.1
XM_005259327.3	775	Intron			XP_005259384.1
XM_011527395.2	775	Intron			XP_011525697.2

Gene

TMEM150B

Gene Name

transmembrane protein 150B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085488.2	775	Missense Mutation	AAG,GAG	K185E	NP_001078957.1
NM_001282011.1	775	Missense Mutation	AAG,GAG	K185E	NP_001268940.1
XM_005258812.3	775	Missense Mutation	AAG,GAG	K185E	XP_005258869.1
XM_011526850.2	775	Intron			XP_011525152.1
XM_011526851.2	775	UTR 3			XP_011525153.1
XM_011526852.2	775	Missense Mutation	AAG,GAG	K185E	XP_011525154.1
XM_011526853.2	775	Missense Mutation	AAG,GAG	K185E	XP_011525155.1
XM_011526854.2	775	Missense Mutation	AAG,GAG	K185E	XP_011525156.1
XM_011526855.2	775	Missense Mutation	AAG,GAG	K185E	XP_011525157.1
XM_011526856.2	775	Missense Mutation	AAG,GAG	K185E	XP_011525158.1
XM_011526857.2	775	Missense Mutation	AAG,GAG	K125E	XP_011525159.1
XM_017026667.1	775	Missense Mutation	AAG,GAG	K185E	XP_016882156.1
XM_017026668.1	775	Missense Mutation	AAG,GAG	K125E	XP_016882157.1

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