Product Details

SNP ID

rs176090

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:24143168 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCCTATGGCCTCAAGACTCTGCT[A/C]GAGGGAATTAGCAGAGCTGTTCTCA

Phenotype

MIM: 612135

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CABYR PubMed Links

Additional Information

For this assay, SNP(s) [rs76208354] 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

CABYR

Gene Name

calcium binding tyrosine phosphorylation regulated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308231.1	241	Intron			NP_001295160.1
NM_012189.3	241	Silent Mutation	CTA,CTC	L18L	NP_036321.2
NM_138643.2	241	Intron			NP_619584.1
NM_138644.2	241	Silent Mutation	CTA,CTC	L18L	NP_619585.1
NM_153768.2	241	Silent Mutation	CTA,CTC	L18L	NP_722452.1
NM_153769.2	241	Silent Mutation	CTA,CTC	L18L	NP_722453.1
NM_153770.2	241	Silent Mutation	CTA,CTC	L18L	NP_722454.1
XM_005258247.2	241	Silent Mutation	CTA,CTC	L18L	XP_005258304.1
XM_017025706.1	241	Silent Mutation	CTA,CTC	L18L	XP_016881195.1

Gene

TTC39C

Gene Name

tetratricopeptide repeat domain 39C

There are no transcripts associated with this gene.

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