Product Details

SNP ID

rs1054797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41354854 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCGGCCCACCACCCACGAAAGCC[C/T]GTGCCAACTGTTCTCGCCAACTGCC

Phenotype

MIM: 611951 MIM: 190180

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

B9D2 PubMed Links

Gene Details

Gene

B9D2

Gene Name

B9 protein domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030578.3	594	Missense Mutation	CAG,CGG	Q125R	NP_085055.2
XM_011527349.2	594	Missense Mutation	CAG,CGG	Q125R	XP_011525651.1
XM_011527350.1	594	Missense Mutation	CAG,CGG	Q72R	XP_011525652.1

Gene

TGFB1

Gene Name

transforming growth factor beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011527242.1	594	Intron			XP_011525544.1

Gene

TMEM91

Gene Name

transmembrane protein 91

There are no transcripts associated with this gene.

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