Product Details

SNP ID

rs76425431

Assay Type

Functionally tested

NCBI dbSNP Submissions

19

Location

Chr.1:109751321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGCAGCCAGTCTGTGACCTCTT[T/C]AGGCCTCGAGCTAAGTCGAAGCATT

Phenotype

MIM: 614989

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

EPS8L3 PubMed Links

Gene Details

Gene

EPS8L3

Gene Name

EPS8 like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319952.1	1741	Missense Mutation	AAA,GAA	K469E	NP_001306881.1
NM_024526.3	1741	Missense Mutation	AAA,GAA	K502E	NP_078802.2
NM_133181.3	1741	Missense Mutation	AAA,GAA	K532E	NP_573444.2
NM_139053.2	1741	Missense Mutation	AAA,GAA	K533E	NP_620641.1
XM_011542132.1	1741	Missense Mutation	AAA,GAA	K541E	XP_011540434.1
XM_011542133.1	1741	Missense Mutation	AAA,GAA	K540E	XP_011540435.1
XM_011542134.2	1741	Missense Mutation	AAA,GAA	K507E	XP_011540436.1
XM_011542135.2	1741	Missense Mutation	AAA,GAA	K477E	XP_011540437.1
XM_017002327.1	1741	Intron			XP_016857816.1
XM_017002328.1	1741	Missense Mutation	AAA,GAA	K511E	XP_016857817.1
XM_017002329.1	1741	Missense Mutation	AAA,GAA	K503E	XP_016857818.1

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