Product Details

SNP ID

rs191236114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45771657 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCGGTTCCGAGCCTCTGCCTCG[C/T]GTAGTTGACTGTGGGGAGGTAAGGA

Phenotype

MIM: 605377 MIM: 600963

Polymorphism

C/T, 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081560.2	2085	Missense Mutation	CAC,CGC	H499R	NP_001075029.1
NM_001081562.2	2085	Missense Mutation	CAC,CGC	H499R	NP_001075031.1
NM_001081563.2	2085	Missense Mutation	CAC,CGC	H514R	NP_001075032.1
NM_001288764.1	2085	Missense Mutation	CAC,CGC	H530R	NP_001275693.1
NM_001288765.1	2085	Missense Mutation	CAC,CGC	H415R	NP_001275694.1
NM_001288766.1	2085	Missense Mutation	CAC,CGC	H499R	NP_001275695.1
NM_004409.4	2085	Missense Mutation	CAC,CGC	H504R	NP_004400.4

Gene

SIX5

Gene Name

SIX homeobox 5

There are no transcripts associated with this gene.

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