Product Details

SNP ID

rs144459016

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81229163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCTGTCCGTGCCCCCTGGGATC[C/T]GTTCAGGTCTCCACCGCCTGCTTTC

Phenotype

MIM: 613479

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CEP131 PubMed Links

Additional Information

For this assay, SNP(s) [rs2048057] 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

CEP131

Gene Name

centrosomal protein 131

There are no transcripts associated with this gene.

Gene

LOC105371925

Gene Name

uncharacterized LOC105371925

There are no transcripts associated with this gene.

Gene

TEPSIN

Gene Name

TEPSIN, adaptor related protein complex 4 accessory protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144679.2	2646	Missense Mutation	CAG,CGG	Q448R	NP_653280.1
XM_005257066.2	2646	Missense Mutation	CAG,CGG	Q726R	XP_005257123.1
XM_005257067.2	2646	Missense Mutation	CAG,CGG	Q516R	XP_005257124.1
XM_006721709.3	2646	Missense Mutation	CAG,CGG	Q518R	XP_006721772.1
XM_006721712.2	2646	Missense Mutation	CAG,CGG	Q364R	XP_006721775.1
XM_011524355.1	2646	Missense Mutation	CAG,CGG	Q728R	XP_011522657.1
XM_011524356.1	2646	Missense Mutation	CAG,CGG	Q660R	XP_011522658.1
XM_011524357.1	2646	Missense Mutation	CAG,CGG	Q511R	XP_011522659.1
XM_011524358.2	2646	Missense Mutation	CAG,CGG	Q511R	XP_011522660.1
XM_017024202.1	2646	Missense Mutation	CAG,CGG	Q559R	XP_016879691.1
XM_017024203.1	2646	Missense Mutation	CAG,CGG	Q538R	XP_016879692.1
XM_017024204.1	2646	Missense Mutation	CAG,CGG	Q511R	XP_016879693.1

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