Product Details

SNP ID

rs200869264

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:54973184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGCTTTGCGCTTCAATCCAGGG[A/T]TTTTTGCTTGGATTCTGAAAATGAA

Phenotype

MIM: 604475

Polymorphism

A/T, Transversion 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	786	Intron			NP_001034842.2
XM_017004098.1	786	Intron			XP_016859587.1
XM_017004099.1	786	Intron			XP_016859588.1
XM_017004100.1	786	Intron			XP_016859589.1
XM_017004101.1	786	Intron			XP_016859590.1
XM_017004102.1	786	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	786	Missense Mutation	AAC,ATC	N978I	NP_001308788.1
NM_001321860.1	786	Missense Mutation	AAC,ATC	N978I	NP_001308789.1
NM_001321861.1	786	Missense Mutation	AAC,ATC	N978I	NP_001308790.1
NM_001321862.1	786	Missense Mutation	AAC,ATC	N978I	NP_001308791.1
NM_001321863.1	786	Missense Mutation	AAC,ATC	N978I	NP_001308792.1
NM_001321904.1	786	Missense Mutation	AAC,ATC	N978I	NP_001308833.1
NM_007008.2	786	Missense Mutation	AAC,ATC	N191I	NP_008939.1
NM_020532.4	786	Missense Mutation	AAC,ATC	N1184I	NP_065393.1
NM_153828.2	786	Missense Mutation	AAC,ATC	N365I	NP_722550.1
NM_207520.1	786	Missense Mutation	AAC,ATC	N384I	NP_997403.1
NM_207521.1	786	Missense Mutation	AAC,ATC	N978I	NP_997404.1
XM_005264434.3	786	Missense Mutation	AAC,ATC	N978I	XP_005264491.1
XM_017004518.1	786	Missense Mutation	AAC,ATC	N978I	XP_016860007.1
XM_017004519.1	786	Missense Mutation	AAC,ATC	N978I	XP_016860008.1

View Full Product Details