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SNP ID: rs149500212
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:41354785 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGCCACCAGCAGCTGTGTGCAGG[C/T]GATAGCGGTCGGCCCCACTGTAGAT
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	663	Missense Mutation	CAC,CGC	H148R	NP_085055.2
XM_011527349.2	663	Missense Mutation	CAC,CGC	H148R	XP_011525651.1
XM_011527350.1	663	Missense Mutation	CAC,CGC	H95R	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	663	Intron			XP_011525544.1

Gene: TMEM91
Gene Name: transmembrane protein 91

There are no transcripts associated with this gene.

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