Product Details

SNP ID

rs185688225

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:201289478 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTTCAGATGAATGTTCTCTTCC[A/G]TCAGGATCTGTATGGTGTGCTTATA

Phenotype

MIM: 601763

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ALS2CR12 PubMed Links

Additional Information

For this assay, SNP(s) [rs17468277] are located under a probe 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

ALS2CR12

Gene Name

amyotrophic lateral sclerosis 2 chromosome region candidate 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127391.2	1045	Missense Mutation	ACG,ATG	T374M	NP_001120863.1
NM_001289993.1	1045	Missense Mutation	ACG,ATG	T374M	NP_001276922.1
NM_139163.3	1045	Missense Mutation	ACG,ATG	T397M	NP_631902.2
XM_011510606.2	1045	Missense Mutation	ACG,ATG	T379M	XP_011508908.1
XM_011510610.2	1045	Missense Mutation	ACG,ATG	T294M	XP_011508912.1
XM_011510612.2	1045	Missense Mutation	ACG,ATG	T188M	XP_011508914.1
XM_017003360.1	1045	Missense Mutation	ACG,ATG	T397M	XP_016858849.1
XM_017003361.1	1045	Intron			XP_016858850.1
XM_017003362.1	1045	Missense Mutation	ACG,ATG	T188M	XP_016858851.1

Gene

CASP8

Gene Name

caspase 8

There are no transcripts associated with this gene.

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