Product Details

SNP ID

rs143821033

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32155705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTACAGGGGGCCTTGTGTGCCGG[A/G]CTCTGCTTTCTGTCATGGATGATCA

Phenotype

MIM: 609897 MIM: 603298

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EGFL8 PubMed Links

Gene Details

Gene

EGFL8

Gene Name

EGF like domain multiple 8

There are no transcripts associated with this gene.

Gene

LOC100507547

Gene Name

uncharacterized LOC100507547

There are no transcripts associated with this gene.

Gene

PPT2

Gene Name

palmitoyl-protein thioesterase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204103.1	759	Missense Mutation	ACT,GCT	T119A	NP_001191032.1
NM_005155.6	759	Missense Mutation	ACT,GCT	T119A	NP_005146.4
NM_138717.2	759	Missense Mutation	ACT,GCT	T125A	NP_619731.2

Gene

PPT2-EGFL8

Gene Name

PPT2-EGFL8 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

PRRT1

Gene Name

proline rich transmembrane protein 1

There are no transcripts associated with this gene.

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