Product Details

SNP ID

rs140239397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27137714 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGCCAGGGCCCCTGGGTCCC[G/T]GAACTGTGCAGGATCCTTCTCGCTT

Phenotype

MIM: 612195 MIM: 606395

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ABHD1 PubMed Links

Gene Details

Gene

ABHD1

Gene Name

abhydrolase domain containing 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178553.3	1196	Silent Mutation	AGG,CGG	R206R	NP_848648.2

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