RGD:155956164 Rat Genome Database

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RGD ID:

155956164

ClinVar ID:

CV2281892

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	19,192,216
GRCh38	8	19,334,705

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001174160.2:c.226T>G NM_001174159.2:c.361T>G NM_001363110.2:c.361T>G NM_001363111.2:c.361T>G More...	04/25/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	SH2D4A
Accession:	NM_022071
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQE DIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASA DAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE*

Gene Symbol:	SH2D4A
Accession:	XM_047422080
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKG RGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNSHTQESK*

Gene Symbol:	SH2D4A
Accession:	NM_001174160
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWRVIEPPCPGAPSTENGKSVHWKLGADKEVWVWVMGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSL KTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSRPAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKK KQDEEINQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPER PPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTG MPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQ LPDYLELFE*

Gene Symbol:	SH2D4A
Accession:	NM_001174159
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQE DIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASA DAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE*

Gene Symbol:	SH2D4A
Accession:	NM_001363111
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKG RGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPW FHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLVEYHKEEP ITSLGKELLLYPCGQQDQLPDYLELFE*

Gene Symbol:	SH2D4A
Accession:	XM_047422079
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNSHTQESK*

Gene Symbol:	SH2D4A
Accession:	NM_001363110
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEVTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR PAPTLEEEKIRKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKG RGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPW FHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLVEYHKEEP ITSLGKELLLYPCGQQDQLPDYLELFE*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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