Product Details

SNP ID

rs199685043

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:6462065 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAGCGCCTCCTGGGTCTCGGGG[C/T]AGCCAGGGGTCCAGCTGTTACCCAC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031475.2	831	Intron			NP_113663.2
XM_005263501.2	831	Intron			XP_005263558.1
XM_011542231.1	831	Intron			XP_011540533.1
XM_011542232.1	831	Intron			XP_011540534.1
XM_011542233.2	831	Intron			XP_011540535.1
XM_011542236.2	831	Intron			XP_011540538.1
XM_011542237.1	831	Intron			XP_011540539.1
XM_011542238.2	831	Intron			XP_011540540.1
XM_017002433.1	831	Intron			XP_016857922.1
XM_017002434.1	831	Intron			XP_016857923.1

Gene

PLEKHG5

Gene Name

pleckstrin homology and RhoGEF domain containing G5

There are no transcripts associated with this gene.

Gene

TNFRSF25

Gene Name

TNF receptor superfamily member 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039664.1	831	Intron			NP_001034753.1
NM_003790.2	831	Missense Mutation	TAC,TGC	Y285C	NP_003781.1
NM_148965.1	831	Missense Mutation	TAC,TGC	Y294C	NP_683866.1
NM_148966.1	831	Missense Mutation	TAC,TGC	Y248C	NP_683867.1
NM_148967.1	831	Missense Mutation	TAC,TGC	Y240C	NP_683868.1
NM_148970.1	831	Missense Mutation	TAC,TGC	Y102C	NP_683871.1

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