Product Details

SNP ID

rs200209474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:51389708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACGTCCACAAGCAGCCGGAGAAG[A/T]CCACCCGCGTGCGGACTGTGCTGAA

Phenotype

MIM: 600366

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ISL1 PubMed Links

Gene Details

Gene

ISL1

Gene Name

ISL LIM homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002202.2	1089	Missense Mutation	ACC,TCC	T181S	NP_002193.2
XM_011543380.2	1089	Missense Mutation	ACC,TCC	T117S	XP_011541682.1

Gene

LOC642366

Gene Name

uncharacterized LOC642366

There are no transcripts associated with this gene.

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