Product Details

SNP ID

rs202245854

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:54973169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGGGCGTTTTCATTCAGCTTTG[C/T]GCTTCAATCCAGGGATTTTTGCTTG

Phenotype

MIM: 604475

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EML6 PubMed Links

Gene Details

Gene

EML6

Gene Name

echinoderm microtubule associated protein like 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039753.2	801	Intron			NP_001034842.2
XM_017004098.1	801	Intron			XP_016859587.1
XM_017004099.1	801	Intron			XP_016859588.1
XM_017004100.1	801	Intron			XP_016859589.1
XM_017004101.1	801	Intron			XP_016859590.1
XM_017004102.1	801	Intron			XP_016859591.1

Gene

RTN4

Gene Name

reticulon 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321859.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308788.1
NM_001321860.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308789.1
NM_001321861.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308790.1
NM_001321862.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308791.1
NM_001321863.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308792.1
NM_001321904.1	801	Missense Mutation	CAC,CGC	H983R	NP_001308833.1
NM_007008.2	801	Missense Mutation	CAC,CGC	H196R	NP_008939.1
NM_020532.4	801	Missense Mutation	CAC,CGC	H1189R	NP_065393.1
NM_153828.2	801	Missense Mutation	CAC,CGC	H370R	NP_722550.1
NM_207520.1	801	Missense Mutation	CAC,CGC	H389R	NP_997403.1
NM_207521.1	801	Missense Mutation	CAC,CGC	H983R	NP_997404.1
XM_005264434.3	801	Missense Mutation	CAC,CGC	H983R	XP_005264491.1
XM_017004518.1	801	Missense Mutation	CAC,CGC	H983R	XP_016860007.1
XM_017004519.1	801	Missense Mutation	CAC,CGC	H983R	XP_016860008.1

View Full Product Details