RGD:401763992 Rat Genome Database

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Variant: RGD:401763992 -  Homo sapiens

RGD ID: 401763992
ClinVar ID: CV2725390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZSCAN16  ZSCAN16-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 28,097,639
GRCh38 6 28,129,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320555.2:c.958T>C
NM_025231.1:c.958T>C
NP_001307485.1:p.Tyr291His
NP_001307484.1:p.Tyr320His
More... 		05/08/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZSCAN16
Accession:NM_001320557
Location:3UTRS;EXON

Gene Symbol:ZSCAN16
Accession:XM_047419378
Location:3UTRS;EXON

Gene Symbol:ZSCAN16
Accession:XM_047419379
Location:3UTRS;EXON

Gene Symbol:ZSCAN16
Accession:NM_025231
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LDLLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPH
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320555
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LDLLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPH
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320556
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LDLLVLEQFLSILPKDLQAWVPGNSERRDILMDKLAPLGRPYESLTVQLHPKKTQLEQEAGKPQRNGDKTRTKNEELFQK
EDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDECGKSFSHSSDLSKHRRTHTGEKPYKCDEC
GKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPHECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:XM_017011324
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LDLLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPH
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320558
Location:INTRON

Gene Symbol:ZSCAN16-AS1
Accession:NR_103456
Location:INTRON;NON-CODING

Gene Symbol:ZSCAN16-AS1
Accession:NR_103455
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004320033 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZSCAN16 CLINVAR
  ZSCAN16-AS1 CLINVAR
OMIM 618544 CLINVAR