Product Details

SNP ID

rs9502621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:7593757 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGATGAAGTTGTGATATGTCCATA[C/T]GATTCCAATCATCACATGCCTAAAT

Phenotype

MIM: 125647

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DSP PubMed Links

Gene Details

Gene

DSP

Gene Name

desmoplakin

There are no transcripts associated with this gene.

Gene

SNRNP48

Gene Name

small nuclear ribonucleoprotein U11/U12 subunit 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152551.3	239	Silent Mutation	TAC,TAT	Y60Y	NP_689764.3
XM_011514312.2	239	Silent Mutation	TAC,TAT	Y39Y	XP_011512614.1

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