Product Details

SNP ID

rs143106589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:19385234 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCAAAGTCCTCCAAGTCCACTC[A/G]CAGCTCATACTTCTGCTTCAGTGTC

Phenotype

MIM: 614144 MIM: 602521 MIM: 600596

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

B9D1 PubMed Links

Gene Details

Gene

B9D1

Gene Name

B9 domain containing 1

There are no transcripts associated with this gene.

Gene

MAPK7

Gene Name

mitogen-activated protein kinase 7

There are no transcripts associated with this gene.

Gene

MFAP4

Gene Name

microfibrillar associated protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198695.1	449	Nonsense Mutation	CGA,TGA	R153*	NP_001185624.1
NM_002404.2	449	Nonsense Mutation	CGA,TGA	R129*	NP_002395.1

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