Product Details

SNP ID

rs200369995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:108208751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAACCGAAGCTCCAAGGCTTTAA[C/T]AGCTAACCTTGTCCCCTCATTTTTG

Phenotype

MIM: 601837

Polymorphism

C/T, Transition 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	3103	Missense Mutation	ATT,GTT	I840V	NP_001091738.1
NM_002312.3	3103	Missense Mutation	ATT,GTT	I840V	NP_002303.2
NM_206937.1	3103	Missense Mutation	ATT,GTT	I840V	NP_996820.1
XM_005254056.1	3103	Missense Mutation	ATT,GTT	I840V	XP_005254113.1
XM_005254057.4	3103	Missense Mutation	ATT,GTT	I840V	XP_005254114.1
XM_005254058.3	3103	Missense Mutation	ATT,GTT	I840V	XP_005254115.1
XM_006719951.3	3103	Missense Mutation	ATT,GTT	I840V	XP_006720014.1
XM_006719952.1	3103	Missense Mutation	ATT,GTT	I840V	XP_006720015.1
XM_011521091.2	3103	Missense Mutation	ATT,GTT	I840V	XP_011519393.1
XM_011521092.2	3103	Missense Mutation	ATT,GTT	I840V	XP_011519394.1
XM_017020563.1	3103	Missense Mutation	ATT,GTT	I852V	XP_016876052.1
XM_017020564.1	3103	Missense Mutation	ATT,GTT	I852V	XP_016876053.1
XM_017020565.1	3103	Missense Mutation	ATT,GTT	I852V	XP_016876054.1
XM_017020566.1	3103	Missense Mutation	ATT,GTT	I852V	XP_016876055.1
XM_017020567.1	3103	Missense Mutation	ATT,GTT	I852V	XP_016876056.1
XM_017020568.1	3103	Missense Mutation	ATT,GTT	I844V	XP_016876057.1
XM_017020569.1	3103	Missense Mutation	ATT,GTT	I840V	XP_016876058.1
XM_017020570.1	3103	Missense Mutation	ATT,GTT	I840V	XP_016876059.1
XM_017020571.1	3103	Missense Mutation	ATT,GTT	I840V	XP_016876060.1
XM_017020572.1	3103	Missense Mutation	ATT,GTT	I773V	XP_016876061.1
XM_017020573.1	3103	Missense Mutation	ATT,GTT	I773V	XP_016876062.1

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