Product Details

SNP ID

rs3007419

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:6468242 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGGTGGGGCGGGCAGCTCAACAGC[C/T]GGACAGGGGTGCGGCGGCGGAGACG

Phenotype

MIM: 606351 MIM: 611101 MIM: 603366

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ESPN PubMed Links

Gene Details

Gene

ESPN

Gene Name

espin

There are no transcripts associated with this gene.

Gene

PLEKHG5

Gene Name

pleckstrin homology and RhoGEF domain containing G5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042663.1	2746	Missense Mutation	CAG,CGG	Q921R	NP_001036128.1
NM_001042664.1	2746	Missense Mutation	CAG,CGG	Q865R	NP_001036129.1
NM_001042665.1	2746	Missense Mutation	CAG,CGG	Q865R	NP_001036130.1
NM_001265592.1	2746	Missense Mutation	CAG,CGG	Q944R	NP_001252521.1
NM_001265593.1	2746	Missense Mutation	CAG,CGG	Q934R	NP_001252522.1
NM_001265594.1	2746	Missense Mutation	CAG,CGG	Q865R	NP_001252523.1
NM_020631.4	2746	Missense Mutation	CAG,CGG	Q865R	NP_065682.2
NM_198681.3	2746	Missense Mutation	CAG,CGG	Q942R	NP_941374.2

Gene

TNFRSF25

Gene Name

TNF receptor superfamily member 25

There are no transcripts associated with this gene.

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