Product Details

SNP ID
rs146318307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44073297 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGGGACACAGGCAGGCTCAGGC[A/G]TTTCTCTGCTCTGGAGGAAGGTACT
Phenotype
MIM: 612931 MIM: 606344
Polymorphism
A/G, 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 1489 Missense Mutation ACG,ATG T431M NP_001271259.1
NM_001284331.1 1489 Silent Mutation AAC,AAT N456N NP_001271260.1
NM_013284.3 1489 Silent Mutation AAC,AAT N493N NP_037416.1
XM_005249711.2 1489 Missense Mutation ACG,ATG T371M XP_005249768.1
XM_006715692.2 1489 Missense Mutation ACG,ATG T511M XP_006715755.1
XM_006715696.2 1489 Missense Mutation ACG,ATG T421M XP_006715759.1
XM_006715698.3 1489 Missense Mutation ACG,ATG T284M XP_006715761.1
XM_011515275.1 1489 Missense Mutation ACG,ATG T516M XP_011513577.1
XM_011515278.1 1489 Missense Mutation ACG,ATG T466M XP_011513580.1
XM_011515279.1 1489 Silent Mutation AAC,AAT N498N XP_011513581.1
XM_011515282.2 1489 Missense Mutation ACG,ATG T283M XP_011513584.1
XM_011515285.1 1489 Missense Mutation ACG,ATG T247M XP_011513587.1
XM_011515286.2 1489 Intron XP_011513588.1
XM_011515287.2 1489 Intron XP_011513589.1
XM_017011998.1 1489 Missense Mutation ACG,ATG T454M XP_016867487.1
XM_017011999.1 1489 Missense Mutation ACG,ATG T436M XP_016867488.1
XM_017012000.1 1489 Silent Mutation AAC,AAT N448N XP_016867489.1
XM_017012001.1 1489 Silent Mutation AAC,AAT N418N XP_016867490.1
XM_017012002.1 1489 Missense Mutation ACG,ATG T247M XP_016867491.1
XM_017012003.1 1489 Missense Mutation ACG,ATG T247M XP_016867492.1
XM_017012004.1 1489 Intron XP_016867493.1
XM_017012005.1 1489 Intron XP_016867494.1

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