Product Details

SNP ID
rs185842266
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44330229 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGTGCTCCTGCACCTCTTCCCCA[C/T]GCAGGGCCTGCAGCCGGCTGCCCAC
Phenotype
MIM: 603191 MIM: 171860
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C21orf2 PubMed Links

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_001271440.1 853 Missense Mutation CAT,CGT H246R NP_001258369.1
NM_001271441.1 853 Missense Mutation CAT,CGT H366R NP_001258370.1
NM_001271442.1 853 Missense Mutation CAT,CGT H205R NP_001258371.1
NM_004928.2 853 Missense Mutation CAT,CGT H247R NP_004919.1
XM_006724051.3 853 Missense Mutation CAT,CGT H272R XP_006724114.1
XM_006724053.3 853 Missense Mutation CAT,CGT H139R XP_006724116.1
XM_017028470.1 853 Missense Mutation CAT,CGT H314R XP_016883959.1
XM_017028471.1 853 Missense Mutation CAT,CGT H230R XP_016883960.1
XM_017028472.1 853 Missense Mutation CAT,CGT H138R XP_016883961.1
Gene
PFKL
Gene Name
phosphofructokinase, liver type
There are no transcripts associated with this gene.

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