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SNP ID

rs112075108

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:143514044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAACAAAGGCGGCCCCGAAGGCGT[C/T]GCGGCGCAGGCGGTTGCGTCTGCGG

Phenotype

MIM: 603375

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMARCA5 PubMed Links

Gene Details

Gene

SMARCA5

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003601.3	582	Silent Mutation	GTC,GTT	V40V	NP_003592.3

Gene

SMARCA5-AS1

Gene Name

SMARCA5 antisense RNA 1

There are no transcripts associated with this gene.

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