rs750503233 Rat Genome Database

rs750503233 Rat Genome Database

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Variant: rs750503233 - Homo sapiens

RGD ID:

151825067

RS ID:

rs750503233

ClinVar ID:

CV1404172

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	12	58,022,492
GRCh38	12	57,628,709

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001478.5:c.1002+4T>C NM_001276468.2:c.837+4T>C NG_033849.1:g.9531T>C NC_000012.12:g.57628709A>G NC_000012.11:g.58022492A>G More...	05/29/2021	intron variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1404172	Human	paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:17576681 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1404172	Human	Spastic paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:17576681 more ...

Gene Symbol:	B4GALNT1
Accession:	NM_001413980
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	336

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKVRS*

Gene Symbol:	B4GALNT1
Accession:	NM_001413979
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	336

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKVRS*

Gene Symbol:	B4GALNT1
Accession:	NM_001413983
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_047428682
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413972
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001478
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413981
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413971
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413969
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_011538147
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_047428681
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413974
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413977
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413968
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001276468
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413978
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_005268773
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001276469
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_047428680
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413984
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413982
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413973
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_024448928
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413970
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413967
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:9536098	PMID:17576681	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001976107	CLINVAR
dbSNP (RS)	rs750503233	CLINVAR
MedGen	C0037772	CLINVAR
NCBI Gene	B4GALNT1	CLINVAR
OMIM	601873	CLINVAR