Product Details

SNP ID

rs146276812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:46367430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGGGGGGTGGGGCTTCGGGAATC[G/T]GGATGTTCTCCAGGTCCAGGAGCCG

Phenotype

MIM: 606421

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ELMO2 PubMed Links

Gene Details

Gene

ELMO2

Gene Name

engulfment and cell motility 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318253.1	2722	Missense Mutation	CAG,CCG	Q610P	NP_001305182.1
NM_133171.4	2722	Missense Mutation	CAG,CCG	Q698P	NP_573403.1
NM_182764.2	2722	Missense Mutation	CAG,CCG	Q698P	NP_877496.1
XM_005260496.3	2722	Missense Mutation	CAG,CCG	Q698P	XP_005260553.1
XM_005260498.3	2722	Missense Mutation	CAG,CCG	Q610P	XP_005260555.1
XM_005260499.3	2722	Missense Mutation	CAG,CCG	Q610P	XP_005260556.1
XM_005260500.3	2722	Missense Mutation	CAG,CCG	Q610P	XP_005260557.1
XM_005260501.4	2722	Missense Mutation	CAG,CCG	Q515P	XP_005260558.1
XM_006723854.3	2722	Missense Mutation	CAG,CCG	Q698P	XP_006723917.1
XM_017028009.1	2722	Missense Mutation	CAG,CCG	Q515P	XP_016883498.1
XM_017028010.1	2722	Missense Mutation	CAG,CCG	Q515P	XP_016883499.1
XM_017028011.1	2722	Missense Mutation	CAG,CCG	Q515P	XP_016883500.1

Gene

SLC35C2

Gene Name

solute carrier family 35 member C2

There are no transcripts associated with this gene.

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