Product Details

SNP ID

rs145043511

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44073179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTCCGGAAGAGCCAGGCCTTGG[C/T]GGGGAGGGGTGAAGGTGGGGGTCAG

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	1607	Silent Mutation	CCA,CCG	P470P	NP_001271259.1
NM_001284331.1	1607	UTR 3			NP_001271260.1
NM_013284.3	1607	UTR 3			NP_037416.1
XM_005249711.2	1607	Silent Mutation	CCA,CCG	P410P	XP_005249768.1
XM_006715692.2	1607	Silent Mutation	CCA,CCG	P550P	XP_006715755.1
XM_006715696.2	1607	Silent Mutation	CCA,CCG	P460P	XP_006715759.1
XM_006715698.3	1607	Silent Mutation	CCA,CCG	P323P	XP_006715761.1
XM_011515275.1	1607	Silent Mutation	CCA,CCG	P555P	XP_011513577.1
XM_011515278.1	1607	Silent Mutation	CCA,CCG	P505P	XP_011513580.1
XM_011515279.1	1607	UTR 3			XP_011513581.1
XM_011515282.2	1607	Silent Mutation	CCA,CCG	P322P	XP_011513584.1
XM_011515285.1	1607	Silent Mutation	CCA,CCG	P286P	XP_011513587.1
XM_011515286.2	1607	Intron			XP_011513588.1
XM_011515287.2	1607	Intron			XP_011513589.1
XM_017011998.1	1607	Silent Mutation	CCA,CCG	P493P	XP_016867487.1
XM_017011999.1	1607	Silent Mutation	CCA,CCG	P475P	XP_016867488.1
XM_017012000.1	1607	UTR 3			XP_016867489.1
XM_017012001.1	1607	UTR 3			XP_016867490.1
XM_017012002.1	1607	Silent Mutation	CCA,CCG	P286P	XP_016867491.1
XM_017012003.1	1607	Silent Mutation	CCA,CCG	P286P	XP_016867492.1
XM_017012004.1	1607	Intron			XP_016867493.1
XM_017012005.1	1607	Intron			XP_016867494.1

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