Product Details

SNP ID

rs201476146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:54974736 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACCATTAAACAAGGCACCAACA[C/T]AGGTAAATACCCACATCAACACTGC

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

There are no transcripts associated with this gene.

Gene

RTN4

Gene Name

reticulon 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321859.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308788.1
NM_001321860.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308789.1
NM_001321861.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308790.1
NM_001321862.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308791.1
NM_001321863.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308792.1
NM_001321904.1	624	Missense Mutation	TAT,TGT	Y924C	NP_001308833.1
NM_007008.2	624	Missense Mutation	TAT,TGT	Y137C	NP_008939.1
NM_020532.4	624	Missense Mutation	TAT,TGT	Y1130C	NP_065393.1
NM_153828.2	624	Missense Mutation	TAT,TGT	Y311C	NP_722550.1
NM_207520.1	624	Missense Mutation	TAT,TGT	Y330C	NP_997403.1
NM_207521.1	624	Missense Mutation	TAT,TGT	Y924C	NP_997404.1
XM_005264434.3	624	Missense Mutation	TAT,TGT	Y924C	XP_005264491.1
XM_017004518.1	624	Missense Mutation	TAT,TGT	Y924C	XP_016860007.1
XM_017004519.1	624	Missense Mutation	TAT,TGT	Y924C	XP_016860008.1

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