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SNP ID: rs41478248
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:127815362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAAGTTCTCCCTTCCTGCCCAGCT[C/T]AGTTCACCAGTGCTGGATCCAGGTT
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	2455	UTR 3			NP_000109.1
NM_001114753.2	2455	UTR 3			NP_001108225.1
NM_001278138.1	2455	UTR 3			NP_001265067.1

Gene: FPGS
Gene Name: folylpolyglutamate synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018078.2	2455	Intron			NP_001018088.1
NM_001288803.1	2455	Intron			NP_001275732.1
NM_004957.5	2455	Intron			NP_004948.4
XM_005251864.3	2455	Intron			XP_005251921.1
XM_011518439.2	2455	Intron			XP_011516741.1
XM_017014565.1	2455	Intron			XP_016870054.1
XM_017014566.1	2455	Intron			XP_016870055.1

Gene: LOC102723566
Gene Name: uncharacterized LOC102723566

There are no transcripts associated with this gene.

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