Product Details

SNP ID

rs201115578

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:108208683 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTATGATCTTCCCCAATTATTAC[A/T]TGAGACACTCCCTCAGCTAAACAAG

Phenotype

MIM: 601837

Polymorphism

A/T, 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	3171	Missense Mutation	CAA,CAT	Q862H	NP_001091738.1
NM_002312.3	3171	Missense Mutation	CAA,CAT	Q862H	NP_002303.2
NM_206937.1	3171	Missense Mutation	CAA,CAT	Q862H	NP_996820.1
XM_005254056.1	3171	Missense Mutation	CAA,CAT	Q862H	XP_005254113.1
XM_005254057.4	3171	Missense Mutation	CAA,CAT	Q862H	XP_005254114.1
XM_005254058.3	3171	Missense Mutation	CAA,CAT	Q862H	XP_005254115.1
XM_006719951.3	3171	Missense Mutation	CAA,CAT	Q862H	XP_006720014.1
XM_006719952.1	3171	Missense Mutation	CAA,CAT	Q862H	XP_006720015.1
XM_011521091.2	3171	Missense Mutation	CAA,CAT	Q862H	XP_011519393.1
XM_011521092.2	3171	Missense Mutation	CAA,CAT	Q862H	XP_011519394.1
XM_017020563.1	3171	Missense Mutation	CAA,CAT	Q874H	XP_016876052.1
XM_017020564.1	3171	Missense Mutation	CAA,CAT	Q874H	XP_016876053.1
XM_017020565.1	3171	Missense Mutation	CAA,CAT	Q874H	XP_016876054.1
XM_017020566.1	3171	Missense Mutation	CAA,CAT	Q874H	XP_016876055.1
XM_017020567.1	3171	Missense Mutation	CAA,CAT	Q874H	XP_016876056.1
XM_017020568.1	3171	Missense Mutation	CAA,CAT	Q866H	XP_016876057.1
XM_017020569.1	3171	Missense Mutation	CAA,CAT	Q862H	XP_016876058.1
XM_017020570.1	3171	Missense Mutation	CAA,CAT	Q862H	XP_016876059.1
XM_017020571.1	3171	Missense Mutation	CAA,CAT	Q862H	XP_016876060.1
XM_017020572.1	3171	Missense Mutation	CAA,CAT	Q795H	XP_016876061.1
XM_017020573.1	3171	Missense Mutation	CAA,CAT	Q795H	XP_016876062.1

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