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See other BHMG1 GT Assays ›
SNP ID:
rs182565629
Gene
BHMG1 DMPK SIX5
Gene Name
Set Membership:
-
Chromosome Location:
Chr.19: 45770530 - 45770530 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

CTCCTGGGCGGCGCCAGACTGCGGT[A/G]AGTTGGCCGGCGTGGGCCACCAACC

Assay ID C_178185878_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 605377 MIM: 600963

Literature Links:

 BHMG1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.00)
(1.00)
Caucasian - Not Available CEPH (CEU) - Not Available
EAS
A (0.00)
(1.00)
African American - Not Available YRI (Yoruba) - Not Available
SAS
A (0.00)
(1.00)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
A (0.02)
(0.98)
Japanese - Not Available JPT (Japanese) - Not Available
EUR
A (0.00)
(1.00)
AMR
A (0.00)
(1.00)
BHMG1 - basic helix-loop-helix and HMG-box containing 1
There are no transcripts associated with this gene.
DMPK - dystrophia myotonica protein kinase
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001081560.2 2422 Silent Mutation CTC,CTT L,L 611 NP_001075029.1
NM_001081562.2 2422 Missense Mutation TCA,TTA S,L 610 NP_001075031.1
NM_001081563.2 2422 Silent Mutation CTC,CTT L,L 626 NP_001075032.1
NM_001288764.1 2422 Silent Mutation CTC,CTT L,L 642 NP_001275693.1
NM_001288765.1 2422 Missense Mutation TCA,TTA S,L 526 NP_001275694.1
NM_001288766.1 2422 UTR 3 NP_001275695.1
NM_004409.4 2422 Silent Mutation CTC,CTT L,L 616 NP_004400.4
SIX5 - SIX homeobox 5
There are no transcripts associated with this gene.

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