Product Details

SNP ID

rs147994983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13932932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCGAGCATCCGCAGCTGGTTGC[A/G]TTGCAGCTGCAGGGTGCGCAGGCCA

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	1420	Missense Mutation	CGC,TGC	R436C	NP_001139726.1
NM_001146255.1	1420	Missense Mutation	CGC,TGC	R347C	NP_001139727.1
NM_024825.3	1420	Missense Mutation	CGC,TGC	R438C	NP_079101.3
XM_006722901.1	1420	Missense Mutation	CGC,TGC	R438C	XP_006722964.1
XM_006722902.1	1420	Missense Mutation	CGC,TGC	R393C	XP_006722965.1
XM_006722903.1	1420	Missense Mutation	CGC,TGC	R349C	XP_006722966.1
XM_011528308.1	1420	Missense Mutation	CGC,TGC	R436C	XP_011526610.1
XM_011528309.2	1420	Missense Mutation	CGC,TGC	R420C	XP_011526611.1
XM_011528310.2	1420	Missense Mutation	CGC,TGC	R408C	XP_011526612.1
XM_011528311.1	1420	Missense Mutation	CGC,TGC	R405C	XP_011526613.1
XM_011528313.1	1420	Missense Mutation	CGC,TGC	R356C	XP_011526615.1
XM_011528314.1	1420	Missense Mutation	CGC,TGC	R341C	XP_011526616.1
XM_011528316.1	1420	Missense Mutation	CGC,TGC	R267C	XP_011526618.1
XM_017027313.1	1420	Missense Mutation	CGC,TGC	R341C	XP_016882802.1

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