rs2104308019 Rat Genome Database

rs2104308019 Rat Genome Database

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Variant: rs2104308019 - Homo sapiens

RGD ID:

127286638

RS ID:

rs2104308019

ClinVar ID:

CV1134200

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129934333 TMEM127

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	96,931,015
GRCh38	2	96,265,277

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_528:g.5737G>T NC_000002.11:g.96931015C>A NP_001180233.1:p.Leu35= NP_060319.1:p.Leu35= More...	04/26/2021	synonymous variant	likely benign	Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1134200	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:28492532
CV1134200	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:28492532

Gene Symbol:	TMEM127
Accession:	NM_001407283
Location:	5UTRS;INTRON

Gene Symbol:	TMEM127
Accession:	NM_017849
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:	TMEM127
Accession:	NM_001193304
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:	TMEM127
Accession:	NM_001407282
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001494486	CLINVAR
dbSNP (RS)	rs2104308019	CLINVAR
MedGen	C1708353	CLINVAR
NCBI Gene	LOC129934333	CLINVAR
	TMEM127	CLINVAR
OMIM	613403	CLINVAR