Product Details

SNP ID

rs191545207

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31201722 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTGCTTGGGTTGGTGGGCTCGG[C/T]CCGCACTGCCTGGTACTGCTCATCC

Phenotype

MIM: 137070 MIM: 606838

Polymorphism

C/T, 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	480	Missense Mutation	ACC,GCC	T151A	NP_037390.2
NM_145182.2	480	Missense Mutation	ACC,GCC	T132A	NP_660183.1

Gene

PYCARD-AS1

Gene Name

PYCARD antisense RNA 1

There are no transcripts associated with this gene.

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