Product Details

SNP ID

rs199925096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48615425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTCTGGCACGCTCGAACTTCC[A/G]GCCCTTGGAGCGGACGTAGGGTCTG

Phenotype

MIM: 604179 MIM: 609932 MIM: 607092

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM83E PubMed Links

Gene Details

Gene

FAM83E

Gene Name

family with sequence similarity 83 member E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017708.3	789	Intron			NP_060178.2
XM_005259019.1	789	Intron			XP_005259076.1
XM_011527049.2	789	Intron			XP_011525351.1

Gene

RPL18

Gene Name

ribosomal protein L18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000979.3	789	Missense Mutation	CGG,TGG	R172W	NP_000970.1
NM_001270490.1	789	Missense Mutation	CGG,TGG	R143W	NP_001257419.1

Gene

SPACA4

Gene Name

sperm acrosome associated 4

There are no transcripts associated with this gene.

Gene

SPHK2

Gene Name

sphingosine kinase 2

There are no transcripts associated with this gene.

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