Product Details

SNP ID

rs201708184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47144509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTTCGTCCTCGGGTTCTGGGTC[C/T]TCTTGCCACGGTGTGGTCGGTTCTG

Phenotype

MIM: 300403 MIM: 300080

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFB11 PubMed Links

Gene Details

Gene

NDUFB11

Gene Name

NADH:ubiquinone oxidoreductase subunit B11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135998.2	702	Silent Mutation	GAA,GAG	E57E	NP_001129470.1
NM_019056.6	702	Silent Mutation	GAA,GAG	E57E	NP_061929.2

Gene

RBM10

Gene Name

RNA binding motif protein 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204466.1	702	Intron			NP_001191395.1
NM_001204467.1	702	Intron			NP_001191396.1
NM_001204468.1	702	Intron			NP_001191397.1
NM_005676.4	702	Intron			NP_005667.2
NM_152856.2	702	Intron			NP_690595.1
XM_005272677.4	702	Intron			XP_005272734.1
XM_005272678.4	702	Intron			XP_005272735.1
XM_005272679.4	702	Intron			XP_005272736.1
XM_006724563.1	702	Intron			XP_006724626.1
XM_011543989.2	702	Intron			XP_011542291.1
XM_017029884.1	702	Intron			XP_016885373.1
XM_017029885.1	702	Intron			XP_016885374.1

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