Product Details

SNP ID

rs74551204

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27131504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGAGCAGGAGCCACACAGGAAC[A/G]CTCCCTGCAGGAGGGAAAGGGAGGA

Phenotype

MIM: 612195 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	1224	Intron			NP_115993.3
XM_011533135.2	1224	Intron			XP_011531437.1
XM_011533136.2	1224	Intron			XP_011531438.1
XM_011533137.2	1224	Intron			XP_011531439.1
XM_011533138.2	1224	Intron			XP_011531440.1
XM_017005113.1	1224	Intron			XP_016860602.1

Gene

PREB

Gene Name

prolactin regulatory element binding

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_006711914.2	1224	Silent Mutation	AGC,AGT	S330S	XP_006711977.1
XM_011532471.2	1224	Missense Mutation	GCG,GTG	A335V	XP_011530773.1
XM_011532472.2	1224	Missense Mutation	GCG,GTG	A277V	XP_011530774.1

Gene

PRR30

Gene Name

proline rich 30

There are no transcripts associated with this gene.

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