Product Details

SNP ID

rs199877134

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62603985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTGGATTTGGCACCATCACTGG[A/T]AACACTATAGATGTAGATCACGTTG

Phenotype

MIM: 603947 MIM: 180721

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

EML3 PubMed Links

Gene Details

Gene

EML3

Gene Name

echinoderm microtubule associated protein like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300793.1	2811	Missense Mutation	ACC,TCC	T711S	NP_001287722.1
NM_001300794.1	2811	Missense Mutation	ACC,TCC	T710S	NP_001287723.1
NM_153265.2	2811	Missense Mutation	ACC,TCC	T710S	NP_694997.2
XM_005273878.3	2811	Missense Mutation	ACC,TCC	T711S	XP_005273935.1
XM_006718489.3	2811	Missense Mutation	ACC,TCC	T761S	XP_006718552.1
XM_006718490.3	2811	Missense Mutation	ACC,TCC	T761S	XP_006718553.1
XM_006718491.3	2811	Missense Mutation	ACC,TCC	T760S	XP_006718554.1
XM_011544896.2	2811	Missense Mutation	ACC,TCC	T760S	XP_011543198.1
XM_011544897.2	2811	Missense Mutation	ACC,TCC	T709S	XP_011543199.1
XM_017017480.1	2811	Missense Mutation	ACC,TCC	T594S	XP_016872969.1
XM_017017481.1	2811	Missense Mutation	ACC,TCC	T594S	XP_016872970.1
XM_017017482.1	2811	Missense Mutation	ACC,TCC	T594S	XP_016872971.1
XM_017017483.1	2811	Missense Mutation	ACC,TCC	T493S	XP_016872972.1

Gene

MTA2

Gene Name

metastasis associated 1 family member 2

There are no transcripts associated with this gene.

Gene

ROM1

Gene Name

retinal outer segment membrane protein 1

There are no transcripts associated with this gene.

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