Product Details

SNP ID

rs142900593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45765965 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATGGCCGTCTCTGGCTTCAGTG[A/G]CAGGGCCAGGCCGGGGGCTGGCGGC

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

There are no transcripts associated with this gene.

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	2151	Missense Mutation	CCA,TCA	P586S	NP_787071.2

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