Product Details

SNP ID

rs7779139

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:44073095 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

TGATGAGGCTGGCACTGAGGGCTCC[C/T]ACCTCATCACACCCTGCAGCACACC

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	1691	Silent Mutation	GTA,GTG	V498V	NP_001271259.1
NM_001284331.1	1691	UTR 3			NP_001271260.1
NM_013284.3	1691	UTR 3			NP_037416.1
XM_005249711.2	1691	Silent Mutation	GTA,GTG	V438V	XP_005249768.1
XM_006715692.2	1691	Silent Mutation	GTA,GTG	V578V	XP_006715755.1
XM_006715696.2	1691	Silent Mutation	GTA,GTG	V488V	XP_006715759.1
XM_006715698.3	1691	Silent Mutation	GTA,GTG	V351V	XP_006715761.1
XM_011515275.1	1691	Silent Mutation	GTA,GTG	V583V	XP_011513577.1
XM_011515278.1	1691	Silent Mutation	GTA,GTG	V533V	XP_011513580.1
XM_011515279.1	1691	UTR 3			XP_011513581.1
XM_011515282.2	1691	Silent Mutation	GTA,GTG	V350V	XP_011513584.1
XM_011515285.1	1691	Silent Mutation	GTA,GTG	V314V	XP_011513587.1
XM_011515286.2	1691	Intron			XP_011513588.1
XM_011515287.2	1691	Intron			XP_011513589.1
XM_017011998.1	1691	Silent Mutation	GTA,GTG	V521V	XP_016867487.1
XM_017011999.1	1691	Silent Mutation	GTA,GTG	V503V	XP_016867488.1
XM_017012000.1	1691	UTR 3			XP_016867489.1
XM_017012001.1	1691	UTR 3			XP_016867490.1
XM_017012002.1	1691	Silent Mutation	GTA,GTG	V314V	XP_016867491.1
XM_017012003.1	1691	Silent Mutation	GTA,GTG	V314V	XP_016867492.1
XM_017012004.1	1691	Intron			XP_016867493.1
XM_017012005.1	1691	Intron			XP_016867494.1

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