H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID:
HIT000000610
Accession number:
AB020700
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
WD repeat-containing protein 47; Neuronal enriched MAP interacting protein; Nemitin;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
14 .. 14
G/C
rs180821863
-
5'UTR
222 .. 222
A/G
rs145802839
-
5'UTR
422 .. 422
T/C
rs112410635
-
CDS
Nonsynonymous[Phe67Leu]
459 .. 459
A/G
rs184073827
-
CDS
Nonsynonymous[Lys79Arg]
470 .. 470
C/T
rs140178030
-
CDS
Nonsynonymous[Arg83Cys]
482 .. 482
C/T
rs55730953
-
CDS
Synonymous[Leu87Leu]
493 .. 493
G/A
rs200850819
-
CDS
Synonymous[Lys90Lys]
522 .. 522
C/T
rs143131789
-
CDS
Nonsynonymous[Ala100Val]
801 .. 801
G/A
rs150518582
-
CDS
Nonsynonymous[Arg193His]
933 .. 933
G/A
rs201047851
-
CDS
Nonsynonymous[Cys237Tyr]
937 .. 937
T/C
rs147738484
-
CDS
Synonymous[Asp238Asp]
943 .. 943
G/A
rs145639482
-
CDS
Synonymous[Leu240Leu]
1060 .. 1060
A/G
rs181292753
-
CDS
Synonymous[Ala279Ala]
1079 .. 1079
C/T
rs139429053
-
CDS
Nonsynonymous[Pro286Ser]
1174 .. 1174
A/C
rs146207643
-
CDS
Nonsynonymous[Leu317Phe]
1222 .. 1222
C/T
rs189692872
-
CDS
Synonymous[Asp333Asp]
1255 .. 1255
C/T
rs143800309
-
CDS
Synonymous[Ser344Ser]
1284 .. 1284
A/T
rs184515595
-
CDS
Nonsynonymous[Gln354Leu]
1352 .. 1352
C/T
rs200519984
-
CDS
Nonsynonymous[Arg377Cys]
1372 .. 1372
A/G
rs199535710
-
CDS
Synonymous[Ala383Ala]
1391 ^ 1392
-/G
rs145298974
-
CDS
1443 .. 1443
A/G
rs188128837
-
CDS
Nonsynonymous[Gln407Arg]
1512 .. 1512
A/G
rs181475108
-
CDS
Nonsynonymous[Tyr430Cys]
1576 .. 1576
A/G
rs200572013
-
CDS
Synonymous[Gln451Gln]
1675 .. 1675
T/G
rs150410604
-
CDS
Synonymous[Gly484Gly]
1678 .. 1678
A/G
rs143316105
-
CDS
Synonymous[Glu485Glu]
1716 .. 1716
C/T
rs141359680
-
CDS
Nonsynonymous[Ser498Leu]
1788 .. 1788
C/T
rs144487132
-
CDS
Nonsynonymous[Thr522Ile]
1827 .. 1827
C/T
rs113434051
-
CDS
Nonsynonymous[Ala535Val]
1853 .. 1853
C/T
rs141474361
-
CDS
Nonsynonymous[Arg544Cys]
1911 .. 1911
A/T
rs150746223
-
CDS
Nonsynonymous[Gln563Leu]
1929 .. 1929
C/T
rs140523650
-
CDS
Nonsynonymous[Ser569Leu]
1998 .. 1998
A/G
rs202151026
-
CDS
Nonsynonymous[Lys592Arg]
2007 .. 2007
A/C
rs199887849
-
CDS
Nonsynonymous[Lys595Thr]
2080 .. 2080
T/C
rs41299563
-
CDS
Synonymous[Gly619Gly]
2181 .. 2181
G/A
rs141008401
-
CDS
Nonsynonymous[Arg653His]
2227 .. 2227
C/A
rs138774417
-
CDS
Synonymous[Ala668Ala]
2311 .. 2311
C/T
rs151087323
-
CDS
Synonymous[Asn696Asn]
2312 .. 2312
G/C
rs141314928
-
CDS
Nonsynonymous[Ala697Pro]
2316 .. 2316
C/T
rs145842744
-
CDS
Nonsynonymous[Thr698Ile]
2429 .. 2429
A/C
rs1538137
-
CDS
Nonsynonymous[Asn736His]
2443 .. 2443
C/T
rs76370963
-
CDS
Synonymous[Thr740Thr]
2481 .. 2481
G/T
rs74576781
-
CDS
Nonsynonymous[Gly753Val]
2623 .. 2623
C/T
rs189774030
-
CDS
Synonymous[Gly800Gly]
2624 .. 2624
A/G
rs142485597
-
CDS
Nonsynonymous[Ser801Gly]
2629 .. 2629
A/G
rs150602693
-
CDS
Synonymous[Ala802Ala]
2752 .. 2752
T/C
rs185973202
-
CDS
Synonymous[Ser843Ser]
2778 ^ 2779
-/C
rs35988108
-
CDS
2833 .. 2833
C/T
rs140431320
-
CDS
Synonymous[Asp870Asp]
2836 .. 2836
A/G
rs141843546
-
CDS
Synonymous[Leu871Leu]
2920 .. 2920
G/A
rs139179400
-
CDS
Synonymous[Gln899Gln]
2974 .. 2974
C/A
rs150803164
-
CDS
AA-STOP[Tyr917*]
3208 .. 3208
T/A
rs187261735
-
3'UTR
3209 .. 3209
C/A
rs182608349
-
3'UTR
3258 .. 3258
A/G
rs139950222
-
3'UTR
3282 .. 3282
G/A
rs189925843
-
3'UTR
3345 .. 3345
T/G
rs112609892
-
3'UTR
3446 .. 3446
C/G
rs185990741
-
3'UTR
3470 .. 3470
C/A
rs144156480
-
3'UTR
3538 .. 3538
A/G
rs507776
-
3'UTR
3565 .. 3565
G/A
rs182805601
-
3'UTR
3756 .. 3756
T/A
rs114053618
-
3'UTR
3761 .. 3761
T/C
rs11803800
-
3'UTR
4181 .. 4181
G/C
rs12068536
-
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;