Product Details

SNP ID

rs2303759

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49365794 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACTCTCTCATCGGATCCTCACAGA[G/T]GACCGACAACAAGACAGGAGAGGTG

Phenotype

MIM: 605418 MIM: 601729

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DKKL1 PubMed Links

Gene Details

Gene

DKKL1

Gene Name

dickkopf like acrosomal protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197301.1	393	Intron			NP_001184230.1
NM_001197302.1	393	Intron			NP_001184231.1
NM_014419.3	393	Missense Mutation	AGG,ATG	R109M	NP_055234.1
XM_006723142.2	393	Missense Mutation	AGG,ATG	R124M	XP_006723205.1
XM_011526724.1	393	Missense Mutation	AGG,ATG	R132M	XP_011525026.1
XM_011526725.1	393	Missense Mutation	AGG,ATG	R116M	XP_011525027.1
XM_011526726.2	393	Missense Mutation	AGG,ATG	R116M	XP_011525028.1
XM_011526727.2	393	Intron			XP_011525029.1
XM_011526728.2	393	Intron			XP_011525030.1
XM_011526729.1	393	Missense Mutation	AGG,ATG	R34M	XP_011525031.1
XM_017026593.1	393	Missense Mutation	AGG,ATG	R34M	XP_016882082.1

Gene

LOC101928295

Gene Name

uncharacterized LOC101928295

There are no transcripts associated with this gene.

Gene

TEAD2

Gene Name

TEA domain transcription factor 2

There are no transcripts associated with this gene.

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