Product Details

SNP ID

rs187831058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143569711 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTCACACCTTCCTGCGATTCA[G/T]CGCGAGGTGGCCCAGGCCCAGCAGG

Phenotype

MIM: 130592 MIM: 611552

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EEF1D PubMed Links

Gene Details

Gene

EEF1D

Gene Name

eukaryotic translation elongation factor 1 delta

There are no transcripts associated with this gene.

Gene

GSDMD

Gene Name

gasdermin D

There are no transcripts associated with this gene.

Gene

MROH6

Gene Name

maestro heat like repeat family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100878.1	1326	Missense Mutation	ATG,CTG	M430L	NP_001094348.1
XM_006716615.2	1326	Missense Mutation	ATG,CTG	M430L	XP_006716678.1
XM_011517214.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515516.1
XM_011517215.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515517.1
XM_011517216.2	1326	Missense Mutation	ATG,CTG	M430L	XP_011515518.1
XM_011517217.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515519.1
XM_011517218.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515520.1
XM_011517219.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515521.1
XM_011517220.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515522.1
XM_011517221.2	1326	Missense Mutation	ATG,CTG	M430L	XP_011515523.1
XM_011517222.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515524.1
XM_011517223.1	1326	Missense Mutation	ATG,CTG	M430L	XP_011515525.1

Gene

NAPRT

Gene Name

nicotinate phosphoribosyltransferase

There are no transcripts associated with this gene.

View Full Product Details