Product Details

SNP ID

rs143248267

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:159927424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAGCCCTAGTAGCATCTCGGCGG[C/T]GGCGGAAGGCCAGGAATTCCTCCCG

Phenotype

MIM: 609738 MIM: 604634

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IGSF9 PubMed Links

Gene Details

Gene

IGSF9

Gene Name

immunoglobulin superfamily member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135050.1	3659	Missense Mutation	CAC,CGC	H1154R	NP_001128522.1
NM_020789.3	3659	Missense Mutation	CAC,CGC	H1138R	NP_065840.2
XM_017001884.1	3659	Intron			XP_016857373.1

Gene

TAGLN2

Gene Name

transgelin 2

There are no transcripts associated with this gene.

View Full Product Details