Product Details

SNP ID

rs146509505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27124060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTACTACTGGGCATGTGTGCTT[A/C]AGGTGGGTGCGGGTCCACCGCTCTG

Phenotype

MIM: 612195 MIM: 606137 MIM: 606395

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ABHD1 PubMed Links

Gene Details

Gene

ABHD1

Gene Name

abhydrolase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032604.3	272	Missense Mutation	AAG,CAG	K38Q	NP_115993.3
XM_011533135.2	272	Missense Mutation	AAG,CAG	K38Q	XP_011531437.1
XM_011533136.2	272	Missense Mutation	AAG,CAG	K38Q	XP_011531438.1
XM_011533137.2	272	Missense Mutation	AAG,CAG	K38Q	XP_011531439.1
XM_011533138.2	272	Missense Mutation	TTA,TTC	L28F	XP_011531440.1
XM_017005113.1	272	Missense Mutation	AAG,CAG	K38Q	XP_016860602.1

Gene

CGREF1

Gene Name

cell growth regulator with EF-hand domain 1

There are no transcripts associated with this gene.

Gene

PREB

Gene Name

prolactin regulatory element binding

There are no transcripts associated with this gene.

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