Product Details

SNP ID

rs201485985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138908713 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAAGAACAGCAGCTAAGACACCC[A/G]TCTTTTGTGTATGTTCATCAACTTC

Phenotype

MIM: 614825

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ECT2L PubMed Links

Gene Details

Gene

ECT2L

Gene Name

epithelial cell transforming 2 like

There are no transcripts associated with this gene.

Gene

REPS1

Gene Name

RALBP1 associated Eps domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128617.2	2477	Missense Mutation	ACG,ATG	T697M	NP_001122089.1
NM_001286611.1	2477	Missense Mutation	ACG,ATG	T724M	NP_001273540.1
NM_001286612.1	2477	Missense Mutation	ACG,ATG	T633M	NP_001273541.1
NM_031922.4	2477	Missense Mutation	ACG,ATG	T723M	NP_114128.3
XM_005267177.3	2477	Missense Mutation	ACG,ATG	T723M	XP_005267234.1
XM_005267178.4	2477	Missense Mutation	ACG,ATG	T724M	XP_005267235.1
XM_005267179.3	2477	Missense Mutation	ACG,ATG	T696M	XP_005267236.1
XM_011536202.2	2477	Missense Mutation	ACG,ATG	T679M	XP_011534504.1
XM_017011387.1	2477	Missense Mutation	ACG,ATG	T722M	XP_016866876.1
XM_017011388.1	2477	Missense Mutation	ACG,ATG	T679M	XP_016866877.1
XM_017011389.1	2477	Missense Mutation	ACG,ATG	T652M	XP_016866878.1

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