Product Details

SNP ID

hCV27540845

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154379730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACGAGAAGAAGATCTTCGAGTA[C/G]GAGACCCAGAGGCGGCGGCTCTCGC

Phenotype

MIM: 300384 MIM: 300017

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EMD PubMed Links

Gene Details

Gene

EMD

Gene Name

emerin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000117.2	371	Nonsense Mutation	TAC,TAG	Y41*	NP_000108.1

Gene

FLNA

Gene Name

filamin A

There are no transcripts associated with this gene.

Gene

LOC107987332

Gene Name

uncharacterized LOC107987332

There are no transcripts associated with this gene.

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