Product Details

SNP ID

rs117101875

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42316543 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGCCACCGATGGCATTGGCAAC[A/G]AGAGTGTGAAGATCTTGGGTGAGAA

Phenotype

MIM: 604267

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MEGF8 PubMed Links

Gene Details

Gene

MEGF8

Gene Name

multiple EGF like domains 8

There are no transcripts associated with this gene.

Gene

PRR19

Gene Name

proline rich 19

There are no transcripts associated with this gene.

Gene

TMEM145

Gene Name

transmembrane protein 145

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173633.2	803	Missense Mutation	AAG,GAG	K237E	NP_775904.2
XM_005258781.4	803	Missense Mutation	AAG,GAG	K251E	XP_005258838.1
XM_011526791.2	803	Missense Mutation	AAG,GAG	K237E	XP_011525093.1
XM_011526792.1	803	Missense Mutation	AAG,GAG	K251E	XP_011525094.1

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