Product Details

SNP ID

rs201447225

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3724501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCCAAGGGACAGTGTCATCTCGA[C/T]CGGCACCTCCGCCTGTCTGGTTGCA

Phenotype

MIM: 609240 MIM: 604682

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GSG2 PubMed Links

Gene Details

Gene

GSG2

Gene Name

germ cell associated 2, haspin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031965.2	599	Missense Mutation	ACC,ATC	T189I	NP_114171.2

Gene

ITGAE

Gene Name

integrin subunit alpha E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002208.4	599	Intron			NP_002199.3
XM_011523823.2	599	Intron			XP_011522125.1
XM_011523825.2	599	Intron			XP_011522127.1
XM_011523827.2	599	Intron			XP_011522129.1
XM_011523828.2	599	Intron			XP_011522130.1
XM_017024586.1	599	Intron			XP_016880075.1
XM_017024587.1	599	Intron			XP_016880076.1

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