Product Details

SNP ID

rs141712038

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:197510469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTGGATGCAAGATTTAAGTTTG[C/G]TTTCCATTTGTGTTTTTGTCTGAAA

Phenotype

MIM: 613292

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DENND1B PubMed Links

Gene Details

Gene

DENND1B

Gene Name

DENN domain containing 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195215.1	2131	Missense Mutation	AAC,AAG	N773K	NP_001182144.1
NM_001195216.1	2131	Intron			NP_001182145.1
NM_001300858.1	2131	Intron			NP_001287787.1
NM_144977.4	2131	Intron			NP_659414.2
XM_005244931.2	2131	Missense Mutation	AAC,AAG	N753K	XP_005244988.1
XM_006711192.2	2131	Missense Mutation	AAC,AAG	N763K	XP_006711255.1
XM_006711193.3	2131	Missense Mutation	AAC,AAG	N763K	XP_006711256.1
XM_006711194.3	2131	Missense Mutation	AAC,AAG	N467K	XP_006711257.1
XM_011509246.2	2131	Missense Mutation	AAC,AAG	N821K	XP_011507548.1
XM_011509247.1	2131	Missense Mutation	AAC,AAG	N801K	XP_011507549.1
XM_011509248.2	2131	Missense Mutation	AAC,AAG	N786K	XP_011507550.1
XM_011509249.2	2131	Missense Mutation	AAC,AAG	N763K	XP_011507551.1
XM_011509251.2	2131	Intron			XP_011507553.1
XM_017000470.1	2131	Missense Mutation	AAC,AAG	N763K	XP_016855959.1
XM_017000471.1	2131	Missense Mutation	AAC,AAG	N743K	XP_016855960.1
XM_017000472.1	2131	Missense Mutation	AAC,AAG	N489K	XP_016855961.1

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