Product Details

SNP ID

rs12683974

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:99109459 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAAATCTTGTTCCTGTGAGGAGGGC[C/T]GCTCATGTAGGGAAGACCCCTGTCA

Phenotype

MIM: 190181

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TGFBR1 PubMed Links

Gene Details

Gene

TGFBR1

Gene Name

transforming growth factor beta receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130916.2		Intron			NP_001124388.1
NM_001306210.1		Intron			NP_001293139.1
NM_004612.3		Intron			NP_004603.1
XM_011518948.2		Intron			XP_011517250.1
XM_011518949.2		Intron			XP_011517251.1
XM_011518950.2		Intron			XP_011517252.1
XM_017015063.1		Intron			XP_016870552.1

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