Product Details

SNP ID

rs201625686

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:88618273 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTCTGTCAATAGCGGCATGATCC[A/G]TAAGATGTTTTCCTGAAGGCACTTC

Phenotype

MIM: 613279

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EML5 PubMed Links

Gene Details

Gene

EML5

Gene Name

echinoderm microtubule associated protein like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_183387.2	5532	Missense Mutation	ACG,ATG	T1866M	NP_899243.1
XM_006720070.3	5532	Missense Mutation	ACG,ATG	T1858M	XP_006720133.1
XM_011536528.2	5532	Missense Mutation	ACG,ATG	T1866M	XP_011534830.1
XM_011536530.2	5532	Missense Mutation	ACG,ATG	T1863M	XP_011534832.1
XM_011536531.2	5532	Missense Mutation	ACG,ATG	T1858M	XP_011534833.1
XM_011536532.2	5532	Missense Mutation	ACG,ATG	T1858M	XP_011534834.1
XM_011536533.2	5532	Missense Mutation	ACG,ATG	T1820M	XP_011534835.1
XM_011536534.2	5532	Missense Mutation	ACG,ATG	T1807M	XP_011534836.1
XM_011536536.2	5532	Intron			XP_011534838.1
XM_011536538.2	5532	Intron			XP_011534840.1
XM_017021062.1	5532	Missense Mutation	ACG,ATG	T1866M	XP_016876551.1
XM_017021063.1	5532	Missense Mutation	ACG,ATG	T1859M	XP_016876552.1
XM_017021064.1	5532	Missense Mutation	ACG,ATG	T1828M	XP_016876553.1
XM_017021065.1	5532	Missense Mutation	ACG,ATG	T1851M	XP_016876554.1
XM_017021066.1	5532	Missense Mutation	ACG,ATG	T1810M	XP_016876555.1
XM_017021067.1	5532	Missense Mutation	ACG,ATG	T1809M	XP_016876556.1
XM_017021068.1	5532	Missense Mutation	ACG,ATG	T1808M	XP_016876557.1
XM_017021069.1	5532	Missense Mutation	ACG,ATG	T1807M	XP_016876558.1
XM_017021070.1	5532	Intron			XP_016876559.1

Gene

ZC3H14

Gene Name

zinc finger CCCH-type containing 14

There are no transcripts associated with this gene.

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