Product Details

SNP ID

rs147622507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:76338358 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACATCGAGTGCTTCCGCTGCTCC[G/T]TGTGCAGCCGCCAGCTGCTGCCTGG

Phenotype

MIM: 609481 MIM: 611611

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ISL2 PubMed Links

Gene Details

Gene

ISL2

Gene Name

ISL LIM homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145805.2	515	Missense Mutation	GTG,TTG	V119L	NP_665804.1
XM_017022505.1	515	Missense Mutation	GTG,TTG	V119L	XP_016877994.1

Gene

SCAPER

Gene Name

S-phase cyclin A associated protein in the ER

There are no transcripts associated with this gene.

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