Product Details

SNP ID

rs200225722

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:37806886 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTCAGAGAACTGGCCTGGGAGC[C/T]GAGGTTGGCACTAGTGAGAGCAAGC

Phenotype

MIM: 600172 MIM: 612276

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C1orf122 PubMed Links

Additional Information

For this assay, SNP(s) [rs2291297] 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

C1orf122

Gene Name

chromosome 1 open reading frame 122

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142726.1	608	Intron			NP_001136198.1
NM_198446.2	608	Intron			NP_940848.2

Gene

MANEAL

Gene Name

mannosidase endo-alpha like

There are no transcripts associated with this gene.

Gene

MTF1

Gene Name

metal regulatory transcription factor 1

There are no transcripts associated with this gene.

Gene

YRDC

Gene Name

yrdC N6-threonylcarbamoyltransferase domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024640.3	608	Missense Mutation	AGC,GGC	S199G	NP_078916.3

View Full Product Details