Product Details

SNP ID

rs145719547

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49331818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTCTCAAAGTCCTGTTTCACTT[C/T]ATGAGGTTTCTTGGTAGCCTTTGCT

Phenotype

MIM: 137028

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM227B PubMed Links

Gene Details

Gene

FAM227B

Gene Name

family with sequence similarity 227 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152647.2	1725	Missense Mutation	AAA,GAA	K461E	NP_689860.2
XM_005254213.3	1725	Missense Mutation	AAA,GAA	K486E	XP_005254270.1
XM_005254214.3	1725	Missense Mutation	AAA,GAA	K486E	XP_005254271.1
XM_005254215.3	1725	Missense Mutation	AAA,GAA	K474E	XP_005254272.1
XM_005254216.3	1725	Missense Mutation	AAA,GAA	K452E	XP_005254273.1
XM_005254219.3	1725	Silent Mutation	TAA,TGA	*381*	XP_005254276.1
XM_005254220.3	1725	Intron			XP_005254277.1
XM_006720423.2	1725	Missense Mutation	AAA,GAA	K486E	XP_006720486.1
XM_006720424.2	1725	Missense Mutation	AAA,GAA	K461E	XP_006720487.1
XM_006720426.2	1725	Missense Mutation	AAA,GAA	K439E	XP_006720489.1
XM_006720427.3	1725	Missense Mutation	AAA,GAA	K403E	XP_006720490.1
XM_011521319.2	1725	Missense Mutation	AAA,GAA	K486E	XP_011519621.1
XM_011521320.1	1725	Missense Mutation	AAA,GAA	K352E	XP_011519622.1
XM_011521321.2	1725	Intron			XP_011519623.1
XM_011521322.1	1725	Missense Mutation	AAA,GAA	K340E	XP_011519624.1
XM_011521324.1	1725	Intron			XP_011519626.1
XM_011521325.2	1725	Intron			XP_011519627.1
XM_011521326.1	1725	Intron			XP_011519628.1
XM_017021990.1	1725	Missense Mutation	AAA,GAA	K405E	XP_016877479.1
XM_017021991.1	1725	Missense Mutation	AAA,GAA	K403E	XP_016877480.1
XM_017021992.1	1725	Missense Mutation	AAA,GAA	K386E	XP_016877481.1
XM_017021993.1	1725	Missense Mutation	AAA,GAA	K380E	XP_016877482.1
XM_017021994.1	1725	Missense Mutation	AAA,GAA	K372E	XP_016877483.1
XM_017021995.1	1725	Missense Mutation	ATA,ATG	I399M	XP_016877484.1
XM_017021996.1	1725	Missense Mutation	AAA,GAA	K352E	XP_016877485.1

Gene

GALK2

Gene Name

galactokinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001556.2	1725	Intron			NP_001001556.1
NM_001289030.1	1725	Intron			NP_001275959.1
NM_001289031.1	1725	Intron			NP_001275960.1
NM_002044.3	1725	Intron			NP_002035.1
XM_005254279.3	1725	Intron			XP_005254336.1
XM_005254280.3	1725	Intron			XP_005254337.1
XM_005254284.3	1725	Intron			XP_005254341.1
XM_006720461.3	1725	UTR 3			XP_006720524.1
XM_006720462.3	1725	Intron			XP_006720525.1
XM_006720463.3	1725	Intron			XP_006720526.1
XM_006720464.3	1725	Intron			XP_006720527.1
XM_011521441.2	1725	Intron			XP_011519743.1
XM_017022062.1	1725	Intron			XP_016877551.1
XM_017022063.1	1725	Intron			XP_016877552.1
XM_017022064.1	1725	Intron			XP_016877553.1
XM_017022065.1	1725	Intron			XP_016877554.1
XM_017022066.1	1725	UTR 3			XP_016877555.1

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