Product Details

SNP ID

rs145221041

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:76338340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCGGGACAGCGTGTACCACATC[C/G]AGTGCTTCCGCTGCTCCGTGTGCAG

Phenotype

MIM: 609481 MIM: 611611

Polymorphism

C/G, 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	497	Missense Mutation	CAG,GAG	Q113E	NP_665804.1
XM_017022505.1	497	Missense Mutation	CAG,GAG	Q113E	XP_016877994.1

Gene

SCAPER

Gene Name

S-phase cyclin A associated protein in the ER

There are no transcripts associated with this gene.

View Full Product Details