Product Details

SNP ID

rs150045306

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45765532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAAGGGCTCCTCCACAGGCACC[A/G]ACTGGAGCTGGGTCAGAACCTTGGC

Phenotype

MIM: 605377 MIM: 600963

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BHMG1 PubMed Links

Gene Details

Gene

BHMG1

Gene Name

basic helix-loop-helix and HMG-box containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001310124.1	2584	Intron			NP_001297053.1
XM_011527571.2	2584	Intron			XP_011525873.1
XM_011527573.2	2584	Intron			XP_011525875.1
XM_011527574.2	2584	Intron			XP_011525876.1

Gene

DMPK

Gene Name

dystrophia myotonica protein kinase

There are no transcripts associated with this gene.

Gene

SIX5

Gene Name

SIX homeobox 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175875.4	2584	Missense Mutation	TCG,TTG	S730L	NP_787071.2

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