RGD:11627873 Rat Genome Database

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Variant: RGD:11627873 -  Homo sapiens

RGD ID: 11627873
ClinVar ID: CV352883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF81  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 47,755,291
GRCh38 X 47,895,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007137.3:c.229G>A
NG_021266.1:g.63991G>A
NC_000023.11:g.47895892G>A
NC_000023.10:g.47755291G>A
More... 		06/14/2016 missense variant likely benign Mental retardation, nonsyndromic, X-linked; X-linked non-specific intellectual disability

Variant Details
Variant Transcripts
Gene Symbol:ZNF81
Accession:NM_001378155
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGKGPW
TLEGEAPHQSCSALWNPEPMCGKA*

Gene Symbol:ZNF81
Accession:NM_007137
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGKGPW
TLEGEAPHQSCSDGKFGIKPSQRRISGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKI
LNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNKSNAAKNLDKTIGHGQVFTQNSSYSHHENTH
TGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKPLLSIY
LRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSA
LNIHQKIHTGERHHKCSECGKAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFP
SKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKSYICAECGKAFTDRSNFNKHQTIHTGEKPYVCADCG
RAFIQKSELITHQRIHTTEKPYKCPDCEKSFSKKPHLKVHQRIHTGEKPYICAECGKAFTDRSNFNKHQTIHTGDKPYKC
SDCGKGFTQKSVLSMHRNIHT*

Gene Symbol:ZNF81
Accession:NM_001378152
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGKGPW
TLEGEAPHQSCSDGKFGIKPSQRRISGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKI
LNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNKSNAAKNLDKTIGHGQVFTQNSSYSHHENTH
TGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKPLLSIY
LRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSA
LNIHQKIHTGERHHKCSECGKAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFP
SKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKSYICAECGKAFTDRSNFNKHQTIHTGEKPYVCADCG
RAFIQKSELITHQRIHTTEKPYKCPDCEKSFSKKPHLKVHQRIHTGEKPYICAECGKAFTDRSNFNKHQTIHTGDKPYKC
SDCGKGFTQKSVLSMHRNIHT*

Gene Symbol:ZNF81
Accession:NM_001378154
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGKGPW
TLEGEAPHQSCSALLTNSSPRSTTRCLAAGSQKLLMDFSTSFSWQSHISS*

Gene Symbol:ZNF81
Accession:NM_001378153
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGKGPW
TLEGEAPHQSCSDGKFGIKPSQRRISGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKI
LNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNKSNAAKNLDKTIGHGQVFTQNSSYSHHENTH
TGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKPLLSIY
LRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSA
LNIHQKIHTGERHHKCSECGKAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFP
SKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKSYICAECGKAFTDRSNFNKHQTIHTGEKPYVCADCG
RAFIQKSELITHQRIHTTEKPYKCPDCEKSFSKKPHLKVHQRIHTGEKPYICAECGKAFTDRSNFNKHQTIHTGDKPYKC
SDCGKGFTQKSVLSMHRNIHT*

Gene Symbol:ZNF81
Accession:NR_165431
Location:INTRON;NON-CODING

Variant Samples