Product Details

SNP ID

rs182008971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:38497731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTTGTCTTATGATCAGGCAAAGC[A/G]GGTGCCTAGATGGGTTCTTGAACAT

Phenotype

MIM: 602730 MIM: 604051

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACVR2B PubMed Links

Gene Details

Gene

ACVR2B

Gene Name

activin A receptor type 2B

There are no transcripts associated with this gene.

Gene

EXOG

Gene Name

endo/exonuclease (5'-3'), endonuclease G-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145464.1	289	Intron			NP_001138936.1
NM_001318954.1	289	Intron			NP_001305883.1
NM_001318955.1	289	Intron			NP_001305884.1
NM_001318956.1	289	UTR 5			NP_001305885.1
NM_001318957.1	289	UTR 5			NP_001305886.1
NM_001318958.1	289	Intron			NP_001305887.1
NM_001318959.1	289	UTR 5			NP_001305888.1
NM_005107.3	289	Missense Mutation	CAG,CGG	Q89R	NP_005098.2
XM_005265633.3	289	Intron			XP_005265690.1
XM_005265635.3	289	Missense Mutation	CAG,CGG	Q89R	XP_005265692.1
XM_006713442.3	289	UTR 5			XP_006713505.1
XM_006713444.3	289	Intron			XP_006713507.1
XM_017007584.1	289	UTR 5			XP_016863073.1
XM_017007585.1	289	UTR 5			XP_016863074.1
XM_017007586.1	289	UTR 5			XP_016863075.1
XM_017007587.1	289	UTR 5			XP_016863076.1
XM_017007588.1	289	UTR 5			XP_016863077.1
XM_017007589.1	289	UTR 5			XP_016863078.1
XM_017007590.1	289	UTR 5			XP_016863079.1
XM_017007591.1	289	UTR 5			XP_016863080.1
XM_017007592.1	289	Intron			XP_016863081.1
XM_017007593.1	289	Intron			XP_016863082.1
XM_017007594.1	289	Intron			XP_016863083.1

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