Product Details

SNP ID

rs201008326

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:74180783 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATTCCCAGTGGGAGGGCGCACC[A/T]TCGTCTTCCTCCCCTGGTCTGAGGC

Phenotype

MIM: 602059 MIM: 610745

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

ISLR PubMed Links

Additional Information

For this assay, SNP(s) [rs12912578] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ISLR

Gene Name

immunoglobulin superfamily containing leucine rich repeat

There are no transcripts associated with this gene.

Gene

STRA6

Gene Name

stimulated by retinoic acid 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142617.1	2051	Missense Mutation	GAA,GAT	E613D	NP_001136089.1
NM_001142618.1	2051	Missense Mutation	GAA,GAT	E613D	NP_001136090.1
NM_001142619.1	2051	Missense Mutation	GAA,GAT	E604D	NP_001136091.1
NM_001142620.1	2051	Intron			NP_001136092.1
NM_001199040.1	2051	Missense Mutation	GAA,GAT	E650D	NP_001185969.1
NM_001199041.1	2051	Missense Mutation	GAA,GAT	E628D	NP_001185970.1
NM_001199042.1	2051	Missense Mutation	GAA,GAT	E652D	NP_001185971.1
NM_022369.3	2051	Missense Mutation	GAA,GAT	E613D	NP_071764.3
XM_011521883.1	2051	Missense Mutation	GAA,GAT	E613D	XP_011520185.1
XM_011521884.1	2051	Missense Mutation	GAA,GAT	E550D	XP_011520186.1
XM_011521885.2	2051	Intron			XP_011520187.1
XM_017022478.1	2051	Missense Mutation	GAA,GAT	E629D	XP_016877967.1
XM_017022479.1	2051	Missense Mutation	GAA,GAT	E613D	XP_016877968.1
XM_017022480.1	2051	Missense Mutation	GAA,GAT	E550D	XP_016877969.1

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