Product Details

SNP ID

rs200929722

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:159928632 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTACTGGAGCAGGGGTCCAGGA[C/T]CTGGCAAGGGACTGGGTGGGGCTGC

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	2954	Missense Mutation	GAT,GGT	D919G	NP_001128522.1
NM_020789.3	2954	Missense Mutation	GAT,GGT	D903G	NP_065840.2
XM_017001884.1	2954	Intron			XP_016857373.1

Gene

TAGLN2

Gene Name

transgelin 2

There are no transcripts associated with this gene.

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