RGD:28880597 Rat Genome Database

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Variant: RGD:28880597 -  Homo sapiens

RGD ID: 28880597
RS ID: rs199823942
ClinVar ID: CV901068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 12,704,541
GRCh38 9 12,704,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000550.2:c.1097C>T
NM_000550.3:c.1097C>T
NC_000009.11:g.12704541C>T
NP_000541.1:p.Thr366Met
More... 		04/27/2017 missense variant uncertain significance Albinism 3; ALBINISM III; Albinism, oculocutaneous, type III; none provided; Rufous albinism; Rufous OCA; Rufous oculocutaneous albinism; Xanthism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:XM_047423841
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLTRLLFIPTLQTVSETQWKVTVTPWESMTLLFEVFTIWLIYS*

Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPMGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

Gene Symbol:LURAP1L-AS1
Accession:NR_125775
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001167384 CLINVAR
  RCV001873551 CLINVAR
dbSNP (RS) rs199823942 CLINVAR
MedGen C0342683 CLINVAR
  CN517202 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
SNOMED CT 63450009 CLINVAR