Product Details

SNP ID

rs189981520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30525530 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGCAGGTCCCCTGTGGGCTGCT[C/T]CCCAAACCCCTGAGTGAAGGAGTCC

Phenotype

MIM: 153370

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ITGAL PubMed Links

Gene Details

Gene

ITGAL

Gene Name

integrin subunit alpha L

There are no transcripts associated with this gene.

Gene

ZNF747

Gene Name

zinc finger protein 747

There are no transcripts associated with this gene.

Gene

ZNF768

Gene Name

zinc finger protein 768

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024671.3	611	Missense Mutation	AAG,GAG	K204E	NP_078947.3
XM_017023665.1	611	Missense Mutation	AAG,GAG	K228E	XP_016879154.1
XM_017023666.1	611	Missense Mutation	AAG,GAG	K173E	XP_016879155.1

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