Product Details

SNP ID

rs201346228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:171435140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATTCCAGGTCACCTATAGCCTAT[A/G]AGAGAGGAAGAATATATTTTGACAA

Phenotype

MIM: 612515 MIM: 609525

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DCAF17 PubMed Links

Gene Details

Gene

DCAF17

Gene Name

DDB1 and CUL4 associated factor 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164821.1	163	Missense Mutation	AAG,GAG	K62E	NP_001158293.1
NM_025000.3	163	Missense Mutation	AAG,GAG	K62E	NP_079276.2
XM_006712767.1	163	UTR 5			XP_006712830.1
XM_006712768.1	163	UTR 5			XP_006712831.1
XM_011511881.1	163	Missense Mutation	AAG,GAG	K62E	XP_011510183.1
XM_011511882.1	163	Missense Mutation	AAG,GAG	K62E	XP_011510184.1
XM_017004995.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860484.1
XM_017004996.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860485.1
XM_017004997.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860486.1
XM_017004998.1	163	UTR 5			XP_016860487.1
XM_017004999.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860488.1
XM_017005000.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860489.1
XM_017005001.1	163	Missense Mutation	AAG,GAG	K62E	XP_016860490.1
XM_017005002.1	163	UTR 5			XP_016860491.1

Gene

METTL8

Gene Name

methyltransferase like 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321154.1	163	Intron			NP_001308083.1
NM_001321155.1	163	Intron			NP_001308084.1
NM_001321156.1	163	Intron			NP_001308085.1
NM_001321157.1	163	Intron			NP_001308086.1
NM_001321158.1	163	Intron			NP_001308087.1
NM_001321159.1	163	Intron			NP_001308088.1
NM_001321160.1	163	Intron			NP_001308089.1
NM_001321161.1	163	Intron			NP_001308090.1
NM_001321162.1	163	Intron			NP_001308091.1
NM_024770.4	163	Intron			NP_079046.2
XM_011511875.2	163	Intron			XP_011510177.1
XM_017004984.1	163	Intron			XP_016860473.1
XM_017004985.1	163	Intron			XP_016860474.1
XM_017004986.1	163	Intron			XP_016860475.1
XM_017004987.1	163	Intron			XP_016860476.1
XM_017004988.1	163	Intron			XP_016860477.1
XM_017004989.1	163	Intron			XP_016860478.1

View Full Product Details