Product Details

SNP ID

rs1319080

Assay Type

Functionally tested

NCBI dbSNP Submissions

59

Location

Chr.1:159927769 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

CGGGGGGCTCACACACCTAGCTCTG[G/T]CTCAGCTTCAGGTCTGAGCCGGGAG

Phenotype

MIM: 609738 MIM: 604634

Polymorphism

G/T, Transversion 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	3547	Missense Mutation	ACA,CCA	T1117P	NP_001128522.1
NM_020789.3	3547	Missense Mutation	ACA,CCA	T1101P	NP_065840.2
XM_017001884.1	3547	Intron			XP_016857373.1

Gene

TAGLN2

Gene Name

transgelin 2

There are no transcripts associated with this gene.

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