Product Details

SNP ID

rs138279491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27128508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCACACTGTTCCATCACCACCG[A/G]GACTTTCTACCCAACGCTGTGGTGT

Phenotype

MIM: 612195 MIM: 606137 MIM: 606395

Polymorphism

A/G, Transition 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	342	Missense Mutation	GAG,GGG	E61G	NP_115993.3
XM_011533135.2	342	Missense Mutation	GAG,GGG	E61G	XP_011531437.1
XM_011533136.2	342	Missense Mutation	GAG,GGG	E61G	XP_011531438.1
XM_011533137.2	342	Missense Mutation	GAG,GGG	E61G	XP_011531439.1
XM_011533138.2	342	Intron			XP_011531440.1
XM_017005113.1	342	Missense Mutation	GAG,GGG	E61G	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.

Gene

PRR30

Gene Name

proline rich 30

There are no transcripts associated with this gene.

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