RGD:401879067 Rat Genome Database

RGD:401879067 Rat Genome Database

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Variant: RGD:401879067 - Homo sapiens

RGD ID:

401879067

ClinVar ID:

CV2780960

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GANC LOC130056919 TMEM87A

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	42,565,496
GRCh38	15	42,273,298

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001393931.1:c.-1184A>G NM_001393932.1:c.-1184A>G NM_198141.3:c.-1184A>G NM_001286487.1:c.-22T>C More...	07/25/2023	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	GANC
Accession:	NM_198141
Location:	5UTRS;EXON

Gene Symbol:	TMEM87A
Accession:	NM_001286487
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001301410
Location:	5UTRS;EXON

Gene Symbol:	TMEM87A
Accession:	XM_011521443
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001393928
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001393931
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001393932
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001393930
Location:	5UTRS;EXON

Gene Symbol:	GANC
Accession:	NM_001393933
Location:	5UTRS;EXON

Gene Symbol:	TMEM87A
Accession:	NM_015497
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAAWLQVLPVILLLLGAHPSPLSFFSAGPATGAAADRSKWHIPIPSGKNYFSFGKILFRNTTIFLKFDGEPCDLSLNI TWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTN LTFIGDKTAMHEPLQTWQDAPYIFIVHIGISSSKESSKENSLSNLFTMTVEVKGPYEYLTLEDYPLMIFFMVMCIVYVLF GVLWLAWSACYWRDLLRIQFWIGAVIFLGMLEKAVFYAEFQNIRYKGESVQGALILAELLSAVKRSLARTLVIIVSLGYG IVKPRLGVTLHKVVVAGALYLLFSGMEGVLRVTGAQTDLASLAFIPLAFLDTALCWWIFISLTQTMKLLKLRRNIVKLSL YRHFTNTLILAVAASIVFIIWTTMKFRIVTCQSDWRELWVDDAIWRLLFSMILFVIMVLWRPSANNQRFAFSPLSEEEEE DEQKEPMLKESFEGMKMRSTKQEPNGNSKVNKAQEDDLKWVEENVPSSVTDVALPALLDSDEERMITHFERSKME*

Gene Symbol:	TMEM87A
Accession:	NM_001110503
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAAWLQVLPVILLLLGAHPSPLSFFSAGPATGAAADRSKWHIPIPSGKNYFSFGKILFRNTTIFLKFDGEPCDLSLNI TWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTN LTFIGDKTIQMPFLKKHFLDC*

Gene Symbol:	TMEM87A
Accession:	XM_005254287
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAAWLQVLPVILLLLGAHPSPLSFFSAGPATGAAADRSKWHIPIPSGKNYFSFGKILFRNTTIFLKFDGEPCDLSLNI TWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTN LTFIGDKTAMHEPLQTWQDAPYIFIVHIGISSSKESSKENSLSNLFTMTVEVKGPYEYLTLEDYPLMIFFMVMCIVYVLF GVLWLAWSACYWRDLLRIQFWIGAVIFLGMLEKAVFYAEFQNIRYKGESVQGALILAELLSAVKRSLARTLVIIVSLGYG IVKPRLGVTLHKVVVAGALYLLFSGMEGVLRVTGYFSYPLTLIVNLALSAIDACVILWIFISLTQTMKLLKLRRNIVKLS LYRHFTNTLILAVAASIVFIIWTTMKFRIVTCQSDWRELWVDDAIWRLLFSMILFVIMVLWRPSANNQRFAFSPLSEEEE EDEQKEPMLKESFEGMKMRSTKQEPNGNSKVNKAQEDDLKWVEENVPSSVTDVALPALLDSDEERMITHFERSKME*

Gene Symbol:	TMEM87A
Accession:	XM_011521444
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAAWLQVLPVILLLLGAHPSPLSFFSAGPATGAAADRSKWHIPIPSGKNYFSFGKILFRNTTIFLKFDGEPCDLSLNI TWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTN LTFIGDKTAMHEPLQTWQDAPYIFIVHIGISSSKESSKENSLSNLFTMTVEVKGPYEYLTLEDYPLMIFFMVMCIVYVLF GVLWLAWSACYWRDLLRIQFWIGAVIFLGMLEKAVFYAEFQNIRYKGESVQGALILAELLSAVKRSLARTLVIIVSLGYG IVKPRLGVTLHKVVVAGALYLLFSGMEGVLRVTG*

Gene Symbol:	GANC
Accession:	NR_172055
Location:	EXON;NON-CODING

Gene Symbol:	TMEM87A
Accession:	XM_006720468
Location:	INTRON

Gene Symbol:	GANC
Accession:	NM_001301409
Location:	INTRON

Gene Symbol:	GANC
Accession:	NM_001393929
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004354493	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	GANC	CLINVAR
	LOC130056919	CLINVAR
	TMEM87A	CLINVAR
OMIM	104180	CLINVAR