Product Details

SNP ID
rs149386595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44073689 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTTCTCCTTCCGGCTGAAGCGG[C/T]GCAGCTCCCGCTGGAAAAGCTGTAG
Phenotype
MIM: 612931 MIM: 606344
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MIR6838 PubMed Links

Gene Details

Gene
MIR6838
Gene Name
microRNA 6838
There are no transcripts associated with this gene.

Gene
PGAM2
Gene Name
phosphoglycerate mutase 2
There are no transcripts associated with this gene.

Gene
POLM
Gene Name
DNA polymerase mu
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284330.1 1291 Missense Mutation NP_001271259.1
NM_001284331.1 1291 Missense Mutation NP_001271260.1
NM_013284.3 1291 Missense Mutation NP_037416.1
XM_005249711.2 1291 Missense Mutation XP_005249768.1
XM_006715692.2 1291 Missense Mutation XP_006715755.1
XM_006715696.2 1291 Missense Mutation XP_006715759.1
XM_006715698.3 1291 Missense Mutation XP_006715761.1
XM_011515275.1 1291 Missense Mutation XP_011513577.1
XM_011515278.1 1291 Missense Mutation XP_011513580.1
XM_011515279.1 1291 Missense Mutation XP_011513581.1
XM_011515282.2 1291 Missense Mutation XP_011513584.1
XM_011515285.1 1291 Missense Mutation XP_011513587.1
XM_011515286.2 1291 Intron XP_011513588.1
XM_011515287.2 1291 Intron XP_011513589.1
XM_017011998.1 1291 Missense Mutation XP_016867487.1
XM_017011999.1 1291 Missense Mutation XP_016867488.1
XM_017012000.1 1291 Missense Mutation XP_016867489.1
XM_017012001.1 1291 Missense Mutation XP_016867490.1
XM_017012002.1 1291 Missense Mutation XP_016867491.1
XM_017012003.1 1291 Missense Mutation XP_016867492.1
XM_017012004.1 1291 Intron XP_016867493.1
XM_017012005.1 1291 Intron XP_016867494.1

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