Product Details

SNP ID

rs200845614

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:745455 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTGCCACTCCTGAGGGCTGCAC[C/G]AAGGCATGACTTGCACCAGGGCCAC

Phenotype

MIM: 611627 MIM: 606969

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DBIL5P PubMed Links

Gene Details

Gene

DBIL5P

Gene Name

diazepam binding inhibitor-like 5, pseudogene

There are no transcripts associated with this gene.

Gene

FAM57A

Gene Name

family with sequence similarity 57 member A

There are no transcripts associated with this gene.

Gene

GEMIN4

Gene Name

gem nuclear organelle associated protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015721.2	2925	Missense Mutation	TCG,TGG	S863W	NP_056536.2
XM_005256667.4	2925	Missense Mutation	TCG,TGG	S867W	XP_005256724.1
XM_005256670.4	2925	Missense Mutation	TCG,TGG	S852W	XP_005256727.1
XM_011523910.2	2925	Missense Mutation	TCG,TGG	S867W	XP_011522212.1
XM_011523911.2	2925	Missense Mutation	TCG,TGG	S867W	XP_011522213.1
XM_011523912.2	2925	Missense Mutation	TCG,TGG	S852W	XP_011522214.1
XM_011523913.2	2925	Missense Mutation	TCG,TGG	S852W	XP_011522215.1
XM_017024709.1	2925	Missense Mutation	TCG,TGG	S867W	XP_016880198.1

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