Product Details

SNP ID

rs199702688

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:102885295 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTGCAGTTCGTCCATTCCTCCC[A/G]AAGAAGAAACAACAGAAGGATAGCT

Phenotype

MIM: 611507 MIM: 611527

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CISD2 PubMed Links

Gene Details

Gene

CISD2

Gene Name

CDGSH iron sulfur domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008388.4	1508	Silent Mutation	CCA,CCG	P61P	NP_001008389.1

Gene

SLC9B1

Gene Name

solute carrier family 9 member B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100874.2	1508	Missense Mutation	CGG,TGG	R456W	NP_001094344.1
NM_139173.3	1508	Intron			NP_631912.2
XM_006714093.3	1508	Intron			XP_006714156.1
XM_011531622.1	1508	Intron			XP_011529924.1
XM_011531623.1	1508	Intron			XP_011529925.1

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