Product Details

SNP ID

rs13308178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44073666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCATGGCTGTTCAGCCACAGGC[C/G]CTTCTCCTTCCGGCTGAAGCGGCGC

Phenotype

MIM: 612931 MIM: 606344

Polymorphism

C/G, Transversion 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	1314	Missense Mutation	CGC,GGC	R373G	NP_001271259.1
NM_001284331.1	1314	Missense Mutation	CGC,GGC	R416G	NP_001271260.1
NM_013284.3	1314	Missense Mutation	CGC,GGC	R453G	NP_037416.1
XM_005249711.2	1314	Missense Mutation	CGC,GGC	R313G	XP_005249768.1
XM_006715692.2	1314	Missense Mutation	CGC,GGC	R453G	XP_006715755.1
XM_006715696.2	1314	Missense Mutation	CGC,GGC	R363G	XP_006715759.1
XM_006715698.3	1314	Missense Mutation	CGC,GGC	R226G	XP_006715761.1
XM_011515275.1	1314	Missense Mutation	CGC,GGC	R458G	XP_011513577.1
XM_011515278.1	1314	Missense Mutation	CGC,GGC	R408G	XP_011513580.1
XM_011515279.1	1314	Missense Mutation	CGC,GGC	R458G	XP_011513581.1
XM_011515282.2	1314	Missense Mutation	CGC,GGC	R225G	XP_011513584.1
XM_011515285.1	1314	Missense Mutation	CGC,GGC	R189G	XP_011513587.1
XM_011515286.2	1314	Intron			XP_011513588.1
XM_011515287.2	1314	Intron			XP_011513589.1
XM_017011998.1	1314	Missense Mutation	CGC,GGC	R396G	XP_016867487.1
XM_017011999.1	1314	Missense Mutation	CGC,GGC	R378G	XP_016867488.1
XM_017012000.1	1314	Missense Mutation	CGC,GGC	R408G	XP_016867489.1
XM_017012001.1	1314	Missense Mutation	CGC,GGC	R378G	XP_016867490.1
XM_017012002.1	1314	Missense Mutation	CGC,GGC	R189G	XP_016867491.1
XM_017012003.1	1314	Missense Mutation	CGC,GGC	R189G	XP_016867492.1
XM_017012004.1	1314	Intron			XP_016867493.1
XM_017012005.1	1314	Intron			XP_016867494.1

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