Product Details

SNP ID

rs141195315

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44330206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTCAGGTCCTGCGGTCACTCGG[C/T]GTGCTCCTGCACCTCTTCCCCACGC

Phenotype

MIM: 603191 MIM: 171860

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C21orf2 PubMed Links

Additional Information

For this assay, SNP(s) [rs11552066] 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

C21orf2

Gene Name

chromosome 21 open reading frame 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271440.1	876	Missense Mutation	ACC,GCC	T254A	NP_001258369.1
NM_001271441.1	876	Missense Mutation	ACC,GCC	T374A	NP_001258370.1
NM_001271442.1	876	Missense Mutation	ACC,GCC	T213A	NP_001258371.1
NM_004928.2	876	Missense Mutation	ACC,GCC	T255A	NP_004919.1
XM_006724051.3	876	Missense Mutation	ACC,GCC	T280A	XP_006724114.1
XM_006724053.3	876	Missense Mutation	ACC,GCC	T147A	XP_006724116.1
XM_017028470.1	876	Missense Mutation	ACC,GCC	T322A	XP_016883959.1
XM_017028471.1	876	Missense Mutation	ACC,GCC	T238A	XP_016883960.1
XM_017028472.1	876	Missense Mutation	ACC,GCC	T146A	XP_016883961.1

Gene

PFKL

Gene Name

phosphofructokinase, liver type

There are no transcripts associated with this gene.

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