Product Details

SNP ID

rs148515772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154380902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGGGAACGCCCCATGTACGGCC[A/G]GGACAGTGCCTACCAGAGCATCACG

Phenotype

MIM: 300384 MIM: 300017

Polymorphism

A/G, Transition 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	718	Missense Mutation	CAG,CGG	Q157R	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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