rs786205698 Rat Genome Database

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Variant: rs786205698 -  Homo sapiens

RGD ID: 10044364
RS ID: rs786205698
ClinVar ID: CV188221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC7A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,251,433
GRCh38 2 47,024,294
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Trait Synonyms
NC_000002.12:g.47024294C>T
NC_000002.11:g.47251433C>T
NP_001275882.1:p.Gln492Ter
NM_020458.4:c.1576C>T
More... 		07/05/2024 nonsense pathogenic neonatal Combined immunodeficiency-enteropathy spectrum; Familial intestinal polyatresia syndrome; Multiple intestinal atresia
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV188221Humanmultiple intestinal atresia  IAGP 8554872ClinVar Annotator: match by term: Multiple gastrointestinal atresiasClinVarPMID:23830146|PMID:24292712|PMID:24417819|PMID:25741868|PMID:28492532
Gene Symbol:TTC7A
Accession:XM_047445150
Location:3UTRS;EXON

Gene Symbol:TTC7A
Accession:NM_020458
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLG
GLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAEL
FMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQK
VLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:NM_001288953
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 492
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPSSSRTPGFKQSSHHLRLPKCWDYRDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGR
LSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREE
EVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETK
ATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISES
MATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAV
SLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELH
RKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAIT
EHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGS
RRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRL
AEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVD
CFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:NM_001288951
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLG
DFRSPEGFQTPQRNICNSEIYRGGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPS
SVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNP
DGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPR
EL*

Gene Symbol:TTC7A
Accession:NM_001288955
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAV
SLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELH
RKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAIT
EHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGS
RRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRL
AEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVD
CFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_011532999
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLG
GLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSSQRPQST*

Gene Symbol:TTC7A
Accession:XM_011533000
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKD
NIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQV
ALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQ
ATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQK
HHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGM
HLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGL
FPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLG
EVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_011533001
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEYKATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGK
SAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSK
QDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVV
NMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHD
ADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLY
MRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQN
EAAVDCFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_017004524
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFKGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASS
IAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKG
NLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTA
LELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_017004525
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGITDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGS
YRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEK
TTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLS
EECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSL
QNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAK
VCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVIL
YVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGP
EEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPS
SVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNP
DGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPR
EL*

Gene Symbol:TTC7A
Accession:XM_024453013
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEGDLVFQEATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMV
ACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDAT
LKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHA
LDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLP
DAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSH
SVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQA
QGQNEAAVDCFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_047445148
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 438
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEA
FVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAY
VKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPH
LYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMK
FAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPK
GYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHA
LHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSF
GEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLK
EAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVER
QSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XM_047445149
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNCSAFEEKPCVPPAVAKAVN*

Gene Symbol:TTC7A
Accession:XM_047445147
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKE
NHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLY
QMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLS
ECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALK
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFKVRKQTLQFHLGGVAWAPILLWLARWEVELCP*

Gene Symbol:TTC7A
Accession:XM_047445145
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSACTHGPGLMTCPWRTSPCIRCGCCRRLLSSKHASGFLGEHSPGGQRSCRGGLSLERLPNSIASRFRLTEREEEVITC
FERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNF
KVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRD
VVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRE
CVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQ
TLERAQ*LAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPEN
FNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASS
IAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKG
NLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTA
LELEASSPVLPFSIIPREL*

Gene Symbol:TTC7A
Accession:XR_007078570
Location:EXON;NON-CODING

Gene Symbol:TTC7A
Accession:XM_017004526
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445146
Location:INTRON

.
PMID:23830146   PMID:24292712   PMID:24417819   PMID:25741868   PMID:28492532  



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Database
Acc Id
Source(s)
ClinVar RCV000170531 CLINVAR
  RCV004562392 CLINVAR
dbSNP (RS) rs786205698 CLINVAR
MedGen C0220744 CLINVAR
  C5680044 CLINVAR
NCBI Gene TTC7A CLINVAR
OMIM 243150 CLINVAR
  609332 CLINVAR
OMIM Allele 609332.0015 CLINVAR
SNOMED CT 95472001 CLINVAR
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