Product Details

SNP ID

rs75471387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31201831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGCGCAGCCCGGTGCTGGTCTAT[A/G]AAGTGCAGGCCTGGGGGTGGGAGGA

Phenotype

MIM: 137070 MIM: 606838

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FUS PubMed Links

Gene Details

Gene

FUS

Gene Name

FUS RNA binding protein

There are no transcripts associated with this gene.

Gene

PYCARD

Gene Name

PYD and CARD domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013258.4	371	Silent Mutation	TTC,TTT	F114F	NP_037390.2
NM_145182.2	371	Silent Mutation	TTC,TTT	F95F	NP_660183.1

Gene

PYCARD-AS1

Gene Name

PYCARD antisense RNA 1

There are no transcripts associated with this gene.

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