Product Details

SNP ID

rs745027

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219435649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCCCACCTCTCAGGGAATTCTG[A/G]GGTGGAAGTTCTTCTCCTCCTGTGG

Phenotype

MIM: 125660 MIM: 615950

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DES PubMed Links

Gene Details

Gene

DES

Gene Name

desmin

There are no transcripts associated with this gene.

Gene

SPEG

Gene Name

SPEG complex locus

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173476.1		Intron			NP_001166947.1
NM_005876.4		Intron			NP_005867.3
XM_005246237.2		Intron			XP_005246294.1
XM_005246239.2		Intron			XP_005246296.1
XM_005246240.2		Intron			XP_005246297.1
XM_005246241.1		Intron			XP_005246298.1
XM_005246242.4		Intron			XP_005246299.1
XM_006712189.3		Intron			XP_006712252.1
XM_006712193.3		Intron			XP_006712256.1
XM_011510479.2		Intron			XP_011508781.1
XM_011510483.2		Intron			XP_011508785.2
XM_017003157.1		Intron			XP_016858646.1
XM_017003158.1		Intron			XP_016858647.1
XM_017003159.1		Intron			XP_016858648.1
XM_017003160.1		Intron			XP_016858649.1
XM_017003161.1		Intron			XP_016858650.1
XM_017003162.1		Intron			XP_016858651.1

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