Product Details

SNP ID

rs141675994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48616787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTATGGTCCCCACAACCACGGCC[A/G]TCTTGTTTTCCCGGCCAGGAAGCTT

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

There are no transcripts associated with this gene.

Gene

RPL18

Gene Name

ribosomal protein L18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000979.3	511	Missense Mutation	ACG,ATG	T79M	NP_000970.1
NM_001270490.1	511	Missense Mutation	ACG,ATG	T50M	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.

View Full Product Details