Product Details

SNP ID

rs201867968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129134136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCTTCCTCCTCCTCTTCCTTTT[A/C]TCCTCTTGCCAGCCGAGCCTCTCTC

Phenotype

MIM: 612764

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ISY1 PubMed Links

Gene Details

Gene

ISY1

Gene Name

ISY1 splicing factor homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199469.1	856	Nonsense Mutation	GAA,TAA	E223*	NP_001186398.1
NM_020701.3	856	Nonsense Mutation	GAA,TAA	E201*	NP_065752.1

Gene

ISY1-RAB43

Gene Name

ISY1-RAB43 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204890.1	856	Nonsense Mutation	GAA,TAA	E201*	NP_001191819.1

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