Product Details

SNP ID

rs201987494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:11114862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCAGTGAATACAGAGCCATCTG[A/G]CCCAACCTGTGAGAAGAAAACATAC

Phenotype

MIM: 300056 MIM: 300552

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HCCS PubMed Links

Gene Details

Gene

HCCS

Gene Name

holocytochrome c synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122608.2	345	Missense Mutation	GAC,GGC	D43G	NP_001116080.1
NM_001171991.2	345	Missense Mutation	GAC,GGC	D43G	NP_001165462.1
NM_005333.4	345	Missense Mutation	GAC,GGC	D43G	NP_005324.3

Gene

MID1

Gene Name

midline 1

There are no transcripts associated with this gene.

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