Product Details

SNP ID

rs113247024

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:6461439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGGCAAGTGGGCGCCGTGTCACG[C/G]GCCGCGCTGCAGGCGGCTGCGCAAG

Phenotype

MIM: 606351 MIM: 611101 MIM: 603366

Polymorphism

C/G, Transversion 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	1226	Intron			NP_113663.2
XM_005263501.2	1226	Intron			XP_005263558.1
XM_011542231.1	1226	Intron			XP_011540533.1
XM_011542232.1	1226	Intron			XP_011540534.1
XM_011542233.2	1226	Intron			XP_011540535.1
XM_011542236.2	1226	Intron			XP_011540538.1
XM_011542237.1	1226	Intron			XP_011540539.1
XM_011542238.2	1226	Intron			XP_011540540.1
XM_017002433.1	1226	Intron			XP_016857922.1
XM_017002434.1	1226	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	1226	Intron			NP_001034753.1
NM_003790.2	1226	Missense Mutation	CCG,GCG	P417A	NP_003781.1
NM_148965.1	1226	Missense Mutation	CCG,GCG	P426A	NP_683866.1
NM_148966.1	1226	Missense Mutation	CCG,GCG	P380A	NP_683867.1
NM_148967.1	1226	Missense Mutation	CCG,GCG	P372A	NP_683868.1
NM_148970.1	1226	Missense Mutation	CCG,GCG	P234A	NP_683871.1

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