Product Details

SNP ID

rs137899041

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:108208844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGGCGTCGAAACATACTGAGAG[C/G]AGAGCAATCCCAGGAATACCGATAT

Phenotype

MIM: 601837

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABHD13 PubMed Links

Gene Details

Gene

ABHD13

Gene Name

abhydrolase domain containing 13

There are no transcripts associated with this gene.

Gene

LIG4

Gene Name

DNA ligase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098268.1	3010	Missense Mutation	CCT,GCT	P809A	NP_001091738.1
NM_002312.3	3010	Missense Mutation	CCT,GCT	P809A	NP_002303.2
NM_206937.1	3010	Missense Mutation	CCT,GCT	P809A	NP_996820.1
XM_005254056.1	3010	Missense Mutation	CCT,GCT	P809A	XP_005254113.1
XM_005254057.4	3010	Missense Mutation	CCT,GCT	P809A	XP_005254114.1
XM_005254058.3	3010	Missense Mutation	CCT,GCT	P809A	XP_005254115.1
XM_006719951.3	3010	Missense Mutation	CCT,GCT	P809A	XP_006720014.1
XM_006719952.1	3010	Missense Mutation	CCT,GCT	P809A	XP_006720015.1
XM_011521091.2	3010	Missense Mutation	CCT,GCT	P809A	XP_011519393.1
XM_011521092.2	3010	Missense Mutation	CCT,GCT	P809A	XP_011519394.1
XM_017020563.1	3010	Missense Mutation	CCT,GCT	P821A	XP_016876052.1
XM_017020564.1	3010	Missense Mutation	CCT,GCT	P821A	XP_016876053.1
XM_017020565.1	3010	Missense Mutation	CCT,GCT	P821A	XP_016876054.1
XM_017020566.1	3010	Missense Mutation	CCT,GCT	P821A	XP_016876055.1
XM_017020567.1	3010	Missense Mutation	CCT,GCT	P821A	XP_016876056.1
XM_017020568.1	3010	Missense Mutation	CCT,GCT	P813A	XP_016876057.1
XM_017020569.1	3010	Missense Mutation	CCT,GCT	P809A	XP_016876058.1
XM_017020570.1	3010	Missense Mutation	CCT,GCT	P809A	XP_016876059.1
XM_017020571.1	3010	Missense Mutation	CCT,GCT	P809A	XP_016876060.1
XM_017020572.1	3010	Missense Mutation	CCT,GCT	P742A	XP_016876061.1
XM_017020573.1	3010	Missense Mutation	CCT,GCT	P742A	XP_016876062.1

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