Product Details

SNP ID

rs144812943

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:26581380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCTACATCAGCATCCCCAGAAGT[A/G]AATCCGAAAGGAGCTGAAAGAAAGA

Phenotype

MIM: 610646

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C2orf70 PubMed Links

Additional Information

For this assay, SNP(s) [rs935172] are located under a probe and SNP(s) [rs935171] 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

C2orf70

Gene Name

chromosome 2 open reading frame 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105519.2	595	Intron			NP_001098989.1
NM_001322426.1	595	Intron			NP_001309355.1
XM_011532810.2	595	Intron			XP_011531112.1
XM_011532811.2	595	Intron			XP_011531113.1
XM_017003962.1	595	Intron			XP_016859451.1
XM_017003963.1	595	Intron			XP_016859452.1
XM_017003964.1	595	Intron			XP_016859453.1
XM_017003965.1	595	Intron			XP_016859454.1
XM_017003966.1	595	Intron			XP_016859455.1

Gene

CIB4

Gene Name

calcium and integrin binding family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029881.2	595	Missense Mutation	CAC,TAC	H181Y	NP_001025052.1
XM_011532514.2	595	Missense Mutation	CAC,TAC	H197Y	XP_011530816.1
XM_011532517.2	595	Missense Mutation	CAC,TAC	H183Y	XP_011530819.1
XM_017003329.1	595	Missense Mutation	CAC,TAC	H158Y	XP_016858818.1
XM_017003330.1	595	Missense Mutation	CAC,TAC	H136Y	XP_016858819.1
XM_017003331.1	595	Intron			XP_016858820.1

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