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Previous release (v1)
2024-04-25 15:06:23, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_005004 678 bp mRNA linear PRI 14-NOV-2023
DEFINITION Homo sapiens NADH:ubiquinone oxidoreductase subunit B8 (NDUFB8),
transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION NM_005004
VERSION NM_005004.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 678)
AUTHORS Signes A and Fernandez-Vizarra E.
TITLE Assembly of mammalian oxidative phosphorylation complexes I-V and
supercomplexes
JOURNAL Essays Biochem 62 (3), 255-270 (2018)
PUBMED 30030361
REMARK Review article
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 678)
AUTHORS Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG,
Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak
A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki
D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E,
Ploski R, Barcia G and Mayr JA.
TITLE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in
Individuals with Leigh-like Encephalomyopathy
JOURNAL Am J Hum Genet 102 (3), 460-467 (2018)
PUBMED 29429571
REMARK GeneRIF: NDUFB8 is a relevant gene in childhood-onset mitochondrial
disease.
REFERENCE 3 (bases 1 to 678)
AUTHORS Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G,
Olahova M, McFarland R, Turnbull DM, Rocha MC and Taylor RW.
TITLE Using a quantitative quadruple immunofluorescent assay to diagnose
isolated mitochondrial Complex I deficiency
JOURNAL Sci Rep 7 (1), 15676 (2017)
PUBMED 29142257
REMARK GeneRIF: We observed loss of NDUFB8 immunoreactivity in all
patients with mutations affecting nuclear-encoding structural
subunits and assembly factors, whilst only 3 of the 10 patients
with mutations affecting mtDNA-encoded structural subunits showed
loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and
IHC using an alternative, commercially-available CI (NDUFS3)
antibody.
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 678)
AUTHORS Guo R, Zong S, Wu M, Gu J and Yang M.
TITLE Architecture of Human Mitochondrial Respiratory Megacomplex
I2III2IV2
JOURNAL Cell 170 (6), 1247-1257 (2017)
PUBMED 28844695
REFERENCE 5 (bases 1 to 678)
AUTHORS Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley
MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and
Ryan MT.
TITLE Accessory subunits are integral for assembly and function of human
mitochondrial complex I
JOURNAL Nature 538 (7623), 123-126 (2016)
PUBMED 27626371
REFERENCE 6 (bases 1 to 678)
AUTHORS Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
TITLE Systematic subcellular localization of novel proteins identified by
large-scale cDNA sequencing
JOURNAL EMBO Rep 1 (3), 287-292 (2000)
PUBMED 11256614
REFERENCE 7 (bases 1 to 678)
AUTHORS Emahazion T, Jobs M, Howell WM, Siegfried M, Wyoni PI, Prince JA
and Brookes AJ.
TITLE Identification of 167 polymorphisms in 88 genes from candidate
neurodegeneration pathways
JOURNAL Gene 238 (2), 315-324 (1999)
PUBMED 10570959
REFERENCE 8 (bases 1 to 678)
AUTHORS Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
Smeets RJ, Trijbels JM and Smeitink JA.
TITLE cDNA of eight nuclear encoded subunits of NADH:ubiquinone
oxidoreductase: human complex I cDNA characterization completed
JOURNAL Biochem Biophys Res Commun 253 (2), 415-422 (1998)
PUBMED 9878551
REFERENCE 9 (bases 1 to 678)
AUTHORS Emahazion T and Brookes AJ.
TITLE Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron
transport chain genes by intron based radiation hybrid mapping
JOURNAL Cytogenet Cell Genet 82 (1-2), 114 (1998)
PUBMED 9763676
REFERENCE 10 (bases 1 to 678)
AUTHORS Dunbar DR, Shibasaki Y, Dobbie L, Andersson B and Brookes AJ.
TITLE In situ hybridisation mapping of genomic clones for five human
respiratory chain complex I genes
JOURNAL Cytogenet Cell Genet 78 (1), 21-24 (1997)
PUBMED 9345899
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA428446.1 and BC000466.2.
On Nov 22, 2018 this sequence version replaced NM_005004.3.
Transcript Variant: This variant (1) encodes the longest isoform
(1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1163658.67268.1, BU601073.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2162946 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
MANE Ensembl match :: ENST00000299166.9/
ENSP00000299166.4
RefSeq Select criteria :: based on conservation,
expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-7 DA428446.1 53-59
8-678 BC000466.2 1-671
FEATURES Location/Qualifiers
source 1..678
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.31"
gene 1..678
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="NADH:ubiquinone oxidoreductase subunit B8"
/db_xref="GeneID:4714"
/db_xref="HGNC:HGNC:7703"
/db_xref="MIM:602140"
exon 1..105
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 1
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1564659022"
variation 3
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133715099"
variation 5
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1398097286"
variation 6
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852123249"
variation 7
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:759646934"
variation 9
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753930427"
variation 10
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1440500154"
variation 11
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1465595419"
variation 13
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:766447378"
variation 18
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1852122912"
variation 20
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:760545213"
CDS 21..581
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="isoform 1 precursor is encoded by transcript
variant 1; complex I ASHI subunit; NADH dehydrogenase
[ubiquinone] 1 beta subcomplex subunit 8, mitochondrial;
NADH:ubiquinone oxidoreductase ASHI subunit; complex
I-ASHI; NADH dehydrogenase (ubiquinone) 1 beta subcomplex,
8, 19kDa"
/codon_start=1
/product="NADH dehydrogenase [ubiquinone] 1 beta
subcomplex subunit 8, mitochondrial isoform 1 precursor"
/protein_id="NP_004995.1"
/db_xref="CCDS:CCDS7497.1"
/db_xref="GeneID:4714"
/db_xref="HGNC:HGNC:7703"
/db_xref="MIM:602140"
/translation="
MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI"
transit_peptide 21..104
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="Mitochondrion. /evidence=ECO:0000250; propagated
from UniProtKB/Swiss-Prot (O95169.1)"
misc_feature 81..578
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="NADH-ubiquinone oxidoreductase ASHI subunit
(CI-ASHI or NDUFB8); Region: NDUF_B8; pfam05821"
/db_xref="CDD:428637"
mat_peptide 105..578
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/product="NADH dehydrogenase [ubiquinone] 1 beta
subcomplex subunit 8, mitochondrial. /id=PRO_0000020046"
/note="propagated from UniProtKB/Swiss-Prot (O95169.1)"
misc_feature 417..479
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="propagated from UniProtKB/Swiss-Prot (O95169.1);
transmembrane region"
variation 21
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:996876380"
variation 23
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:773159817"
variation 24
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1852122657"
variation 25
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:866796358"
variation 26
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:372108871"
variation 31
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:900043958"
variation 32
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:151134265"
variation 33..35
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="agg"
/db_xref="dbSNP:1852122171"
variation 33
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1489713817"
variation 34
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:565567384"
variation 36
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:774035294"
variation 37
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1205269262"
variation 38
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:142073536"
variation 39..42
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="gggg"
/db_xref="dbSNP:1852121736"
variation 39..40
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="ta"
/db_xref="dbSNP:1852121975"
variation 40
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1852121904"
variation 41
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:748828360"
variation 42
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:139827718"
variation 44..45
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="a"
/db_xref="dbSNP:1852121501"
variation 44
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1323742319"
variation 45
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:570235496"
variation 46..47
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="aaaaaa"
/db_xref="dbSNP:1852121360"
variation 47..49
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="ggg"
/db_xref="dbSNP:1852121163"
variation 47
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1216537274"
variation 49
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:747478517"
variation 50
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:201996614"
variation 52
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:146449373"
variation 53
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:144068575"
variation 55
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:755087128"
variation 57
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:201604335"
variation 60
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1470441621"
variation 65
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:754069273"
variation 67
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169044755"
variation 68
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2133714889"
variation 70
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:139653725"
variation 75
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:760778443"
variation 76
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1279043913"
variation 77
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589747987"
variation 78
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:750333617"
variation 80
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:557180160"
variation 81
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1422526452"
variation 87
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:761657977"
variation 92..94
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:1461969770"
variation 96
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1028329871"
variation 98
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852119491"
variation 99
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1852119436"
variation 100
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:774081491"
variation 101
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:768503876"
variation 102
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852119239"
variation 105
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1417422321"
exon 106..232
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 106
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:200405716"
variation 107
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781076920"
variation 109
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747812"
variation 110
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1197973446"
variation 111
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:757380757"
variation 114
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1323032685"
variation 118
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852112566"
variation 119
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:751413358"
variation 120
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852112420"
variation 121
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1223153563"
variation 122
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:764140417"
variation 123
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:758254924"
variation 124
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1312296001"
variation 125
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:144790458"
variation 126
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765127094"
variation 127
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852111919"
variation 129
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1589747789"
variation 131
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589747784"
variation 132
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852111701"
variation 133
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:759204762"
variation 134
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1231617595"
variation 136
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1564658791"
variation 137
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1347794017"
variation 138
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747772"
variation 139
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1284271077"
variation 140
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589747767"
variation 141
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1353672637"
variation 144
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:776366809"
variation 147
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1029277811"
variation 151
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1852110845"
variation 153
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1734732941"
variation 154
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:765763068"
variation 162
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1564658779"
variation 163
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:760276028"
variation 165
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:774701819"
variation 167
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1385302293"
variation 169
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:370646549"
variation 170
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749651049"
variation 171
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1431194011"
variation 173
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:374858636"
variation 174
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:770159278"
variation 175
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852110065"
variation 179
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1253685328"
variation 181
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:202208089"
variation 183
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1852109839"
variation 187
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:746041997"
variation 189
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:371166959"
variation 191
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:747170990"
variation 192
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1277930360"
variation 193
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:777566917"
variation 204
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1554843434"
variation 206
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852109316"
variation 208..209
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1264186261"
variation 208
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:758343104"
variation 209
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589747722"
variation 211
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747721"
variation 212
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589747717"
variation 213
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:548513373"
variation 214
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:752691357"
variation 215
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852108767"
variation 218
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589747709"
variation 219
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:201800577"
variation 225
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:754849509"
variation 226
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1326523429"
variation 228
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1005571394"
variation 230
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:373520531"
variation 232
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753398848"
exon 233..332
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 235
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753173137"
variation 239
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1243228211"
variation 240
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765790228"
variation 242
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:759812842"
variation 247
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1239013578"
variation 248
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852064713"
variation 252
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:199893243"
variation 255
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:771212688"
variation 261
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:375681068"
variation 262
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1349292336"
variation 263
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852064146"
variation 267
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1006986751"
variation 270
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1240718429"
variation 272
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1301217677"
variation 274
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1462645305"
variation 277
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:746755969"
variation 278
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589746700"
variation 281
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1249653129"
variation 282
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1417118241"
variation 284
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1564658096"
variation 286
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:773596188"
variation 287
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852063429"
variation 291
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1414529540"
variation 293
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:563427442"
variation 297
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:774420062"
variation 301
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133711484"
variation 302
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:371943326"
variation 303
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:149421373"
variation 304
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:779843883"
variation 305
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:140007412"
variation 311
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:545322090"
variation 314
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:2133711462"
variation 317
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:780865155"
variation 322
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:756739746"
variation 324
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1490644262"
variation 325
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1390073015"
variation 329
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755572616"
variation 331
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:185514139"
variation 332
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:368053910"
exon 333..488
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 335
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:746676560"
variation 340
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1261907379"
variation 342
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1457512706"
variation 343
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:978524809"
variation 344
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1311207270"
variation 345
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:777288090"
variation 347
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1852055216"
variation 350
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852055150"
variation 352
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852055089"
variation 353
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1210714520"
variation 354
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1225097898"
variation 359
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:757873469"
variation 361
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852054849"
variation 366
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:150699698"
variation 367
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:200080913"
variation 368
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852054619"
variation 371
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1364192590"
variation 373
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:917147305"
variation 376
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1289475597"
variation 378
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="t"
/db_xref="dbSNP:2133710956"
variation 379
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:11552667"
variation 382
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1465760792"
variation 383
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852054334"
variation 384
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199739248"
variation 386
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:750887910"
variation 387
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:866840327"
variation 388
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:74154666"
variation 389
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:762073731"
variation 390
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:774740786"
variation 391
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:924719214"
variation 393
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802224"
variation 394
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1186565311"
variation 400..401
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="at"
/db_xref="dbSNP:1564657892"
variation 400
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:559234558"
variation 401
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852053430"
variation 403
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:775478218"
variation 405..406
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="at"
/db_xref="dbSNP:1412201574"
variation 405
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:769679829"
variation 406
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1324010433"
variation 409
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1257131806"
variation 410
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1489656155"
variation 411
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:547145059"
variation 414
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852052754"
variation 419
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:759472442"
variation 422
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:775806330"
variation 423..426
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="ggtt"
/db_xref="dbSNP:1852052314"
variation 423
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:770735541"
variation 425
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:746623340"
variation 429
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:777327930"
variation 437
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1230454152"
variation 440
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:889334038"
variation 447
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765591575"
variation 449
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:747668007"
variation 451
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1166474531"
variation 452
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1554843251"
variation 456
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:780603311"
variation 457
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589746369"
variation 458..462
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="ggggg"
/replace="gggggg"
/db_xref="dbSNP:1281408166"
variation 458
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1564657838"
variation 460
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:756626427"
variation 462
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:371563487"
variation 463
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1443463176"
variation 464
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:367781741"
variation 465
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:141801241"
variation 469
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:751774934"
variation 472
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:375513200"
variation 474
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:763076321"
variation 476
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852050732"
variation 478
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:752651050"
variation 479
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1476769829"
variation 484
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1481608279"
variation 485
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:2133710733"
variation 486
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765371638"
exon 489..678
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 490
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:755033805"
variation 491
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1227721930"
variation 492..493
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1014974582"
variation 492
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:554508872"
variation 493
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:536256551"
variation 495
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1256746661"
variation 496
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852000115"
variation 497
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1273787354"
variation 499
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1432271522"
variation 500
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755950389"
variation 501
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1335681657"
variation 504
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:750400047"
variation 505
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:767181095"
variation 507
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851999641"
variation 508
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1334522892"
variation 510
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1447317435"
variation 512
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1409348197"
variation 516
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589745382"
variation 520
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1015814951"
variation 521
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708153"
variation 522
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1417272593"
variation 524..535
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="gg"
/replace="ggaacgaggcgg"
/db_xref="dbSNP:755543402"
variation 528
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:761712789"
variation 529
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:143117272"
variation 533
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:145033355"
variation 534
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057136071"
variation 536
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1419292653"
variation 537
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1181997824"
variation 540
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:762549874"
variation 551
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1851998447"
variation 558
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:775076125"
variation 559
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:769449155"
variation 560
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1436635101"
variation 561
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589745344"
variation 563
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1157281961"
variation 565
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1387625007"
variation 571
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:773808077"
variation 572
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:372940223"
variation 577
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1353153402"
variation 578
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851997784"
variation 580
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1215602767"
variation 583
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:772301961"
variation 587
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1851997611"
variation 590
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:748599424"
variation 591
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:200839476"
variation 594
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755123646"
variation 604
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851997310"
variation 606
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1284621853"
variation 608
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708061"
variation 614
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1851997218"
variation 626..627
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="t"
/replace="tt"
/db_xref="dbSNP:754088775"
variation 631
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044402137"
variation 640
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1035578454"
variation 641
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1236824442"
variation 642
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1262381753"
variation 643
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1851996961"
variation 645
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589745305"
variation 646
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1351186494"
variation 649
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1209863909"
variation 651
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1254223197"
variation 655
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851996751"
variation 656
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1240873376"
regulatory 657..662
/regulatory_class="polyA_signal_sequence"
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="hexamer: AATAAA"
variation 657
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133708020"
variation 660
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1851996658"
variation 665
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1003789817"
variation 669
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708015"
variation 671
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:553345762"
variation 675
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589745291"
variation 677
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:3179689"
polyA_site 678
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="major polyA site"
ORIGIN
gaaacgtgaagaaggtgaagatggcggtggccagggccggggtcttgggagtccagtggctgcaaagggcatcccggaacgtgatgccgctgggcgcacggacagcctcccacatgaccaaggacatgttcccggggccctatcctaggaccccagaagaacgggccgccgccgccaagaagtataatatgcgtgtggaagactacgaaccttacccggatgatggcatggggtatggcgactacccgaagctccctgaccgctcacagcatgagagagatccatggtatagctgggaccagccgggcctgaggttgaactggggtgaaccgatgcactggcacctagacatgtacaacaggaaccgtgtggatacatcccccacacctgtttcttggcatgtcatgtgtatgcagctcttcggtttcctggctttcatgatattcatgtgctgggtgggggacgtgtaccctgtctaccagcctgtgggaccaaagcagtatccttacaataatctgtacctggaacgaggcggtgatccctccaaagaaccagagcgggtggttcactatgagatctgaggaggcttcgtgggcttttgggtcctctaactaggactccctcattcctagaaatttaaccttaatgaaatccctaataaaactcagtgctgtgtta
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
[Full Text]