RGD:329375371 Rat Genome Database

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Variant: RGD:329375371 -  Homo sapiens

RGD ID: 329375371
ClinVar ID: CV2468548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZSCAN16  ZSCAN16-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 28,093,467
GRCh38 6 28,125,689
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.246C>A
NM_001320556.2:c.246C>A
NM_001320557.2:c.246C>A
NM_001320558.2:c.246C>A
More... 		02/28/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZSCAN16
Accession:NM_025231
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPY
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320555
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPY
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320557
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGCLLLKHRIGPVCVLFVCYR*

Gene Symbol:ZSCAN16
Accession:NM_001320556
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVPGNSERRDILMDKLAPLGRPYESLTVQLHPKKTQLEQEAGKPQRNGDKTRTKNEELFQK
EDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDECGKSFSHSSDLSKHRRTHTGEKPYKCDEC
GKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPYECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:NM_001320558
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGKQEQF*

Gene Symbol:ZSCAN16
Accession:XM_017011324
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGDKTRTKNEELFQKEDMPKDKEFLGEINDRLNKDTPQHPKSKDIIENEGRSEWQQRERRRYKCDE
CGKSFSHSSDLSKHRRTHTGEKPYKCDECGKAFIQRSHLIGHHRVHTGVKPYKCKECGKDFSGRTGLIQHQRIHTGEKPY
ECDECGRPFRVSSALIRHQRIHTANKLY*

Gene Symbol:ZSCAN16
Accession:XM_047419378
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGCLLLKHRIGPVCVLFVCYR*

Gene Symbol:ZSCAN16
Accession:XM_047419379
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTALEPEDQKGLLIIKAEDHYWGQDSSSQKCSPHRRELYRQHFRKLCYQDAPGPREALTQLWELCRQWLRPECHTKEQI
LELLVLEQFLSILPKDLQAWVRAHHPETGEEAVTVLEDLERELDEPGKQVPGNSERRDILMDKLAPLGRPYESLTVQLHP
KKTQLEQEAGKPQRNGCLLLKHRIGPVCVLFVCYR*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004278120 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZSCAN16 CLINVAR
  ZSCAN16-AS1 CLINVAR
OMIM 618544 CLINVAR