Product Details

SNP ID

rs147002334

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:127675975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAGCCCTGCCTCCCCCAGGAGCC[A/C]GCTGCGAGGCCAACACCTTCGATGG

Phenotype

MIM: 608308 MIM: 616627

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ABTB1 PubMed Links

Additional Information

For this assay, SNP(s) [rs35703629] 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

ABTB1

Gene Name

ankyrin repeat and BTB domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032548.3	231	UTR 5			NP_115937.1
NM_172027.2	231	Missense Mutation	AGC,CGC	S61R	NP_742024.1
XM_006713769.3	231	Missense Mutation	AGC,CGC	S63R	XP_006713832.1
XM_011513213.1	231	UTR 5			XP_011511515.1
XM_017007285.1	231	Missense Mutation	AGC,CGC	S61R	XP_016862774.1
XM_017007286.1	231	Missense Mutation	AGC,CGC	S36R	XP_016862775.1
XM_017007287.1	231	UTR 5			XP_016862776.1
XM_017007288.1	231	UTR 5			XP_016862777.1

Gene

PODXL2

Gene Name

podocalyxin like 2

There are no transcripts associated with this gene.

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