Product Details

SNP ID

rs1685312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219435195 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTGAGCGGGACGCCCCAGCCCA[G/T]CCTCCGCTGGTTCCGGGATGGGCAG

Phenotype

MIM: 125660 MIM: 615950

Polymorphism

G/T, Transversion 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	354	Intron			NP_001166947.1
NM_005876.4	354	Missense Mutation	AGC,ATC	S73I	NP_005867.3
XM_005246237.2	354	Intron			XP_005246294.1
XM_005246239.2	354	Intron			XP_005246296.1
XM_005246240.2	354	Intron			XP_005246297.1
XM_005246241.1	354	Intron			XP_005246298.1
XM_005246242.4	354	Intron			XP_005246299.1
XM_006712189.3	354	Intron			XP_006712252.1
XM_006712193.3	354	Intron			XP_006712256.1
XM_011510479.2	354	Missense Mutation	AGC,ATC	S73I	XP_011508781.1
XM_011510483.2	354	Intron			XP_011508785.2
XM_017003157.1	354	Intron			XP_016858646.1
XM_017003158.1	354	Intron			XP_016858647.1
XM_017003159.1	354	Intron			XP_016858648.1
XM_017003160.1	354	Intron			XP_016858649.1
XM_017003161.1	354	Intron			XP_016858650.1
XM_017003162.1	354	Intron			XP_016858651.1

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