Product Details

SNP ID

rs667524

Assay Type

Functionally Tested

NCBI dbSNP Submissions

42

Location

Chr.1:109114324 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGGGAACGGGACCGGAGCTTCA[C/T]GCCTGCAAAGAGGTACTGCCGCCCC

Phenotype

MIM: 611298

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C1orf194 PubMed Links

Additional Information

For this assay, SNP(s) [rs586530] 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

C1orf194

Gene Name

chromosome 1 open reading frame 194

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122961.1	362	Intron			NP_001116433.1
XM_005270448.3	362	Intron			XP_005270505.1
XM_006710342.3	362	Intron			XP_006710405.1
XM_006710343.3	362	Intron			XP_006710406.1
XM_011540647.2	362	Intron			XP_011538949.1
XM_011540648.1	362	Intron			XP_011538950.1

Gene

KIAA1324

Gene Name

KIAA1324

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267048.1	362	Silent Mutation	CAC,CAT	H47H	NP_001253977.1
NM_001284352.1	362	UTR 5			NP_001271281.1
NM_001284353.1	362	Intron			NP_001271282.1
NM_020775.4	362	Silent Mutation	CAC,CAT	H47H	NP_065826.2
XM_011541825.1	362	Silent Mutation	CAC,CAT	H47H	XP_011540127.1
XM_011541826.2	362	Silent Mutation	CAC,CAT	H47H	XP_011540128.1
XM_011541827.1	362	Silent Mutation	CAC,CAT	H47H	XP_011540129.1
XM_017001883.1	362	UTR 5			XP_016857372.1

View Full Product Details