Product Details

SNP ID

rs138799379

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127817178 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTCAGGGCTGATGATGTTCAAG[C/T]GCATGAAGACAGTCCTATGGACTTC

Phenotype

MIM: 131195 MIM: 136510

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENG PubMed Links

Gene Details

Gene

ENG

Gene Name

endoglin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000118.3	1870	Missense Mutation	CAC,CGC	H571R	NP_000109.1
NM_001114753.2	1870	Missense Mutation	CAC,CGC	H571R	NP_001108225.1
NM_001278138.1	1870	Missense Mutation	CAC,CGC	H389R	NP_001265067.1

Gene

FPGS

Gene Name

folylpolyglutamate synthase

There are no transcripts associated with this gene.

Gene

LOC102723566

Gene Name

uncharacterized LOC102723566

There are no transcripts associated with this gene.

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