Product Details

SNP ID

rs121912998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:7542003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGGCCCGGACCTGCGCTACGAG[A/G]TGACCAGCGGCGGCGGGGGCACCAG

Phenotype

MIM: 125647

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DSP PubMed Links

Gene Details

Gene

DSP

Gene Name

desmoplakin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008844.2	429	Missense Mutation	ATG,GTG	M30V	NP_001008844.1
NM_001319034.1	429	Missense Mutation	ATG,GTG	M30V	NP_001305963.1
NM_004415.3	429	Missense Mutation	ATG,GTG	M30V	NP_004406.2

Gene

LOC101928076

Gene Name

uncharacterized LOC101928076

There are no transcripts associated with this gene.

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