Product Details

SNP ID
rs138701979
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44073372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCTCTGAAGCCGCTTGGAAAAA[C/T]GTCTTCTGCAACAGAAGCAGGACTT
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 1414 Missense Mutation CAT,CGT H406R NP_001271259.1
NM_001284331.1 1414 Silent Mutation ACA,ACG T431T NP_001271260.1
NM_013284.3 1414 Silent Mutation ACA,ACG T468T NP_037416.1
XM_005249711.2 1414 Missense Mutation CAT,CGT H346R XP_005249768.1
XM_006715692.2 1414 Missense Mutation CAT,CGT H486R XP_006715755.1
XM_006715696.2 1414 Missense Mutation CAT,CGT H396R XP_006715759.1
XM_006715698.3 1414 Missense Mutation CAT,CGT H259R XP_006715761.1
XM_011515275.1 1414 Missense Mutation CAT,CGT H491R XP_011513577.1
XM_011515278.1 1414 Missense Mutation CAT,CGT H441R XP_011513580.1
XM_011515279.1 1414 Silent Mutation ACA,ACG T473T XP_011513581.1
XM_011515282.2 1414 Missense Mutation CAT,CGT H258R XP_011513584.1
XM_011515285.1 1414 Missense Mutation CAT,CGT H222R XP_011513587.1
XM_011515286.2 1414 Intron XP_011513588.1
XM_011515287.2 1414 Intron XP_011513589.1
XM_017011998.1 1414 Missense Mutation CAT,CGT H429R XP_016867487.1
XM_017011999.1 1414 Missense Mutation CAT,CGT H411R XP_016867488.1
XM_017012000.1 1414 Silent Mutation ACA,ACG T423T XP_016867489.1
XM_017012001.1 1414 Silent Mutation ACA,ACG T393T XP_016867490.1
XM_017012002.1 1414 Missense Mutation CAT,CGT H222R XP_016867491.1
XM_017012003.1 1414 Missense Mutation CAT,CGT H222R XP_016867492.1
XM_017012004.1 1414 Intron XP_016867493.1
XM_017012005.1 1414 Intron XP_016867494.1

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