Product Details

SNP ID

rs75262491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13933040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCACGCAACCGGCGGAAGGCCC[A/G]GTGGTGCACACGGGCGCTGGCCAGG

Phenotype

MIM: 610055

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CC2D1A PubMed Links

Gene Details

Gene

CC2D1A

Gene Name

coiled-coil and C2 domain containing 1A

There are no transcripts associated with this gene.

Gene

PODNL1

Gene Name

podocan like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146254.1	1312	Missense Mutation	CGG,TGG	R400W	NP_001139726.1
NM_001146255.1	1312	Missense Mutation	CGG,TGG	R311W	NP_001139727.1
NM_024825.3	1312	Missense Mutation	CGG,TGG	R402W	NP_079101.3
XM_006722901.1	1312	Missense Mutation	CGG,TGG	R402W	XP_006722964.1
XM_006722902.1	1312	Missense Mutation	CGG,TGG	R357W	XP_006722965.1
XM_006722903.1	1312	Missense Mutation	CGG,TGG	R313W	XP_006722966.1
XM_011528308.1	1312	Missense Mutation	CGG,TGG	R400W	XP_011526610.1
XM_011528309.2	1312	Missense Mutation	CGG,TGG	R384W	XP_011526611.1
XM_011528310.2	1312	Missense Mutation	CGG,TGG	R372W	XP_011526612.1
XM_011528311.1	1312	Missense Mutation	CGG,TGG	R369W	XP_011526613.1
XM_011528313.1	1312	Missense Mutation	CGG,TGG	R320W	XP_011526615.1
XM_011528314.1	1312	Missense Mutation	CGG,TGG	R305W	XP_011526616.1
XM_011528316.1	1312	Missense Mutation	CGG,TGG	R231W	XP_011526618.1
XM_017027313.1	1312	Missense Mutation	CGG,TGG	R305W	XP_016882802.1

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