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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1483465263

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:108150110 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16758, 8.3KJPN) (+ 1 more)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NRCAM : Stop Gained
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 A=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999996 A=0.000004
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16758 G=0.99994 A=0.00006
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.108150110G>A
GRCh37.p13 chr 7 NC_000007.13:g.107790555G>A
NRCAM RefSeqGene NG_029898.2:g.311608C>T
Gene: NRCAM, neuronal cell adhesion molecule (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NRCAM transcript variant 57 NM_001371150.1:c.*63= N/A 3 Prime UTR Variant
NRCAM transcript variant 59 NM_001371157.1:c.*63= N/A 3 Prime UTR Variant
NRCAM transcript variant 54 NM_001371142.1:c.3064C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform Y NP_001358071.1:p.Arg1022T…

NP_001358071.1:p.Arg1022Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 68 NM_001371159.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform ll precursor NP_001358088.1:p.Arg1127T…

NP_001358088.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 43 NM_001371154.1:c.3166C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform O precursor NP_001358083.1:p.Arg1056T…

NP_001358083.1:p.Arg1056Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 61 NM_001371160.1:c.3394C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform ff precursor NP_001358089.1:p.Arg1132T…

NP_001358089.1:p.Arg1132Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 32 NM_001371132.1:c.3355C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform J precursor NP_001358061.1:p.Arg1119T…

NP_001358061.1:p.Arg1119Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 7 NM_001371131.1:c.3715C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform A precursor NP_001358060.1:p.Arg1239T…

NP_001358060.1:p.Arg1239Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 41 NM_001371153.1:c.3400C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform N precursor NP_001358082.1:p.Arg1134T…

NP_001358082.1:p.Arg1134Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 27 NM_001371126.1:c.3658C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform H precursor NP_001358055.1:p.Arg1220T…

NP_001358055.1:p.Arg1220Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 22 NM_001371181.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358110.1:p.Arg1127T…

NP_001358110.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 44 NM_001371166.1:c.3166C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform O precursor NP_001358095.1:p.Arg1056T…

NP_001358095.1:p.Arg1056Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 25 NM_001371149.1:c.3445C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform G precursor NP_001358078.1:p.Arg1149T…

NP_001358078.1:p.Arg1149Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 37 NM_001371164.1:c.3370C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform L NP_001358093.1:p.Arg1124T…

NP_001358093.1:p.Arg1124Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 60 NM_001371158.1:c.3532C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform ee precursor NP_001358087.1:p.Arg1178T…

NP_001358087.1:p.Arg1178Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 66 NM_001371175.1:c.3052C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform kk precursor NP_001358104.1:p.Arg1018T…

NP_001358104.1:p.Arg1018Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 31 NM_001371129.1:c.3355C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform J precursor NP_001358058.1:p.Arg1119T…

NP_001358058.1:p.Arg1119Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 56 NM_001371146.1:c.3622C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform aa precursor NP_001358075.1:p.Arg1208T…

NP_001358075.1:p.Arg1208Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 30 NM_001371147.1:c.3091C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform I NP_001358076.1:p.Arg1031T…

NP_001358076.1:p.Arg1031Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 35 NM_001371176.1:c.3361C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform K precursor NP_001358105.1:p.Arg1121T…

NP_001358105.1:p.Arg1121Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 23 NM_001371162.1:c.3343C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform F precursor NP_001358091.1:p.Arg1115T…

NP_001358091.1:p.Arg1115Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 46 NM_001371127.1:c.3433C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform Q precursor NP_001358056.1:p.Arg1145T…

NP_001358056.1:p.Arg1145Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 38 NM_001371148.1:c.3082C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform M NP_001358077.1:p.Arg1028T…

NP_001358077.1:p.Arg1028Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 13 NM_001371144.1:c.3436C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform D precursor NP_001358073.1:p.Arg1146T…

NP_001358073.1:p.Arg1146Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 9 NM_001371151.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform B precursor NP_001358080.1:p.Arg1118T…

NP_001358080.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 24 NM_001371123.1:c.3445C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform G precursor NP_001358052.1:p.Arg1149T…

NP_001358052.1:p.Arg1149Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 33 NM_001371130.1:c.3361C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform K precursor NP_001358059.1:p.Arg1121T…

NP_001358059.1:p.Arg1121Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 62 NM_001371169.1:c.3679C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform gg precursor NP_001358098.1:p.Arg1227T…

NP_001358098.1:p.Arg1227Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 21 NM_001371177.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358106.1:p.Arg1127T…

NP_001358106.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 64 NM_001371173.1:c.3412C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform ii precursor NP_001358102.1:p.Arg1138T…

NP_001358102.1:p.Arg1138Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 28 NM_001371172.1:c.3658C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform H precursor NP_001358101.1:p.Arg1220T…

NP_001358101.1:p.Arg1220Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 11 NM_001371178.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform B precursor NP_001358107.1:p.Arg1118T…

NP_001358107.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 52 NM_001371140.1:c.3469C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform W precursor NP_001358069.1:p.Arg1157T…

NP_001358069.1:p.Arg1157Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 45 NM_001371119.1:c.3667C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform P precursor NP_001358048.1:p.Arg1223T…

NP_001358048.1:p.Arg1223Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 39 NM_001371179.1:c.3082C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform M NP_001358108.1:p.Arg1028T…

NP_001358108.1:p.Arg1028Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 12 NM_001371128.1:c.3436C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform D precursor NP_001358057.1:p.Arg1146T…

NP_001358057.1:p.Arg1146Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 26 NM_001371124.1:c.3658C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform H precursor NP_001358053.1:p.Arg1220T…

NP_001358053.1:p.Arg1220Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 49 NM_001371136.1:c.3478C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform T precursor NP_001358065.1:p.Arg1160T…

NP_001358065.1:p.Arg1160Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 14 NM_001371168.1:c.3436C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform D precursor NP_001358097.1:p.Arg1146T…

NP_001358097.1:p.Arg1146Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 15 NM_001371122.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358051.1:p.Arg1127T…

NP_001358051.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 55 NM_001371145.1:c.3505C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform Z precursor NP_001358074.1:p.Arg1169T…

NP_001358074.1:p.Arg1169Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 48 NM_001371135.1:c.3388C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform S precursor NP_001358064.1:p.Arg1130T…

NP_001358064.1:p.Arg1130Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 65 NM_001371174.1:c.3370C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform jj precursor NP_001358103.1:p.Arg1124T…

NP_001358103.1:p.Arg1124Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 36 NM_001371143.1:c.3370C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform L NP_001358072.1:p.Arg1124T…

NP_001358072.1:p.Arg1124Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 58 NM_001371156.1:c.3724C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform cc precursor NP_001358085.1:p.Arg1242T…

NP_001358085.1:p.Arg1242Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 47 NM_001371134.1:c.3349C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform R precursor NP_001358063.1:p.Arg1117T…

NP_001358063.1:p.Arg1117Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 20 NM_001371167.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358096.1:p.Arg1127T…

NP_001358096.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 10 NM_001371171.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform B precursor NP_001358100.1:p.Arg1118T…

NP_001358100.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 40 NM_001371180.1:c.3082C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform M NP_001358109.1:p.Arg1028T…

NP_001358109.1:p.Arg1028Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 17 NM_001371155.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358084.1:p.Arg1127T…

NP_001358084.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 67 NM_001371182.1:c.3304C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform mm precursor NP_001358111.1:p.Arg1102T…

NP_001358111.1:p.Arg1102Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 29 NM_001371125.1:c.3091C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform I NP_001358054.1:p.Arg1031T…

NP_001358054.1:p.Arg1031Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 34 NM_001371152.1:c.3361C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform K precursor NP_001358081.1:p.Arg1121T…

NP_001358081.1:p.Arg1121Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 63 NM_001371170.1:c.3094C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform hh NP_001358099.1:p.Arg1032T…

NP_001358099.1:p.Arg1032Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 50 NM_001371137.1:c.2443C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform U NP_001358066.1:p.Arg815Ter R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 16 NM_001371139.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358068.1:p.Arg1127T…

NP_001358068.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 8 NM_001371133.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform B precursor NP_001358062.1:p.Arg1118T…

NP_001358062.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 18 NM_001371163.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358092.1:p.Arg1127T…

NP_001358092.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 42 NM_001371161.1:c.3400C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform N precursor NP_001358090.1:p.Arg1134T…

NP_001358090.1:p.Arg1134Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 19 NM_001371165.1:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001358094.1:p.Arg1127T…

NP_001358094.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 53 NM_001371141.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X precursor NP_001358070.1:p.Arg1118T…

NP_001358070.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 51 NM_001371138.1:c.3553C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform V precursor NP_001358067.1:p.Arg1185T…

NP_001358067.1:p.Arg1185Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 1 NM_001037132.4:c.3715C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform A precursor NP_001032209.1:p.Arg1239T…

NP_001032209.1:p.Arg1239Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 2 NM_005010.5:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform B precursor NP_005001.3:p.Arg1118Ter R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 4 NM_001193582.2:c.3436C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform D precursor NP_001180511.1:p.Arg1146T…

NP_001180511.1:p.Arg1146Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 6 NM_001193584.2:c.3343C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform F precursor NP_001180513.1:p.Arg1115T…

NP_001180513.1:p.Arg1115Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 5 NM_001193583.2:c.3379C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform E precursor NP_001180512.1:p.Arg1127T…

NP_001180512.1:p.Arg1127Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant 69 NR_163867.1:n.3966C>T N/A Non Coding Transcript Variant
NRCAM transcript variant 73 NR_163871.1:n.4009C>T N/A Non Coding Transcript Variant
NRCAM transcript variant 71 NR_163869.1:n.4119C>T N/A Non Coding Transcript Variant
NRCAM transcript variant 70 NR_163868.1:n.4254C>T N/A Non Coding Transcript Variant
NRCAM transcript variant 72 NR_163870.1:n.3958C>T N/A Non Coding Transcript Variant
NRCAM transcript variant X14 XM_011516265.4:c. N/A Genic Downstream Transcript Variant
NRCAM transcript variant X35 XM_024446780.2:c. N/A Genic Downstream Transcript Variant
NRCAM transcript variant X1 XM_011516253.3:c.3736C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X1 XP_011514555.1:p.Arg1246T…

XP_011514555.1:p.Arg1246Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X2 XM_011516255.2:c.3736C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X1 XP_011514557.1:p.Arg1246T…

XP_011514557.1:p.Arg1246Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X3 XM_006716003.3:c.3727C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X2 XP_006716066.1:p.Arg1243T…

XP_006716066.1:p.Arg1243Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X4 XM_011516257.3:c.3718C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X3 XP_011514559.1:p.Arg1240T…

XP_011514559.1:p.Arg1240Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X5 XM_011516258.2:c.3718C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X3 XP_011514560.1:p.Arg1240T…

XP_011514560.1:p.Arg1240Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X6 XM_011516259.3:c.3706C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X4 XP_011514561.1:p.Arg1236T…

XP_011514561.1:p.Arg1236Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X7 XM_017012236.3:c.3697C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X5 XP_016867725.1:p.Arg1233T…

XP_016867725.1:p.Arg1233Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X8 XM_011516261.3:c.3688C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X6 XP_011514563.1:p.Arg1230T…

XP_011514563.1:p.Arg1230Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X9 XM_011516262.3:c.3679C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X7 XP_011514564.1:p.Arg1227T…

XP_011514564.1:p.Arg1227Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X10 XM_017012238.3:c.3667C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X8 XP_016867727.1:p.Arg1223T…

XP_016867727.1:p.Arg1223Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X11 XM_047420417.1:c.3679C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X9 XP_047276373.1:p.Arg1227T…

XP_047276373.1:p.Arg1227Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X12 XM_017012239.3:c.3661C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X10 XP_016867728.1:p.Arg1221T…

XP_016867728.1:p.Arg1221Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X13 XM_047420418.1:c.3649C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X11 XP_047276374.1:p.Arg1217T…

XP_047276374.1:p.Arg1217Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X15 XM_011516267.3:c.3457C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X13 XP_011514569.1:p.Arg1153T…

XP_011514569.1:p.Arg1153Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X16 XM_006716012.3:c.3448C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X14 XP_006716075.1:p.Arg1150T…

XP_006716075.1:p.Arg1150Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X17 XM_011516268.3:c.3448C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X15 XP_011514570.1:p.Arg1150T…

XP_011514570.1:p.Arg1150Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X18 XM_011516269.3:c.3421C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X16 XP_011514571.1:p.Arg1141T…

XP_011514571.1:p.Arg1141Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X19 XM_017012246.3:c.3418C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X17 XP_016867735.1:p.Arg1140T…

XP_016867735.1:p.Arg1140Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X20 XM_006716014.3:c.3412C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X18 XP_006716077.1:p.Arg1138T…

XP_006716077.1:p.Arg1138Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X21 XM_011516270.3:c.3409C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X19 XP_011514572.1:p.Arg1137T…

XP_011514572.1:p.Arg1137Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X22 XM_047420419.1:c.3406C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X20 XP_047276375.1:p.Arg1136T…

XP_047276375.1:p.Arg1136Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X23 XM_017012247.3:c.3391C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X21 XP_016867736.1:p.Arg1131T…

XP_016867736.1:p.Arg1131Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X24 XM_017012248.3:c.3391C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X22 XP_016867737.1:p.Arg1131T…

XP_016867737.1:p.Arg1131Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X25 XM_017012251.3:c.3382C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X23 XP_016867740.1:p.Arg1128T…

XP_016867740.1:p.Arg1128Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X26 XM_024446777.2:c.3382C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X24 XP_024302545.1:p.Arg1128T…

XP_024302545.1:p.Arg1128Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X27 XM_047420420.1:c.3352C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X25 XP_047276376.1:p.Arg1118T…

XP_047276376.1:p.Arg1118Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X28 XM_024446778.2:c.3364C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X26 XP_024302546.1:p.Arg1122T…

XP_024302546.1:p.Arg1122Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X29 XM_047420421.1:c.3322C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X27 XP_047276377.1:p.Arg1108T…

XP_047276377.1:p.Arg1108Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X30 XM_047420422.1:c.3331C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X28 XP_047276378.1:p.Arg1111T…

XP_047276378.1:p.Arg1111Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X31 XM_047420423.1:c.3313C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X29 XP_047276379.1:p.Arg1105T…

XP_047276379.1:p.Arg1105Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X32 XM_047420424.1:c.3325C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X30 XP_047276380.1:p.Arg1109T…

XP_047276380.1:p.Arg1109Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X33 XM_024446779.2:c.3304C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X31 XP_024302547.1:p.Arg1102T…

XP_024302547.1:p.Arg1102Ter

R (Arg) > * (Ter) Stop Gained
NRCAM transcript variant X34 XM_047420425.1:c.3295C>T R [CGA] > * [TGA] Coding Sequence Variant
neuronal cell adhesion molecule isoform X32 XP_047276381.1:p.Arg1099T…

XP_047276381.1:p.Arg1099Ter

R (Arg) > * (Ter) Stop Gained
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 7 NC_000007.14:g.108150110= NC_000007.14:g.108150110G>A
GRCh37.p13 chr 7 NC_000007.13:g.107790555= NC_000007.13:g.107790555G>A
NRCAM RefSeqGene NG_029898.2:g.311608= NG_029898.2:g.311608C>T
NRCAM transcript variant 2 NM_005010.5:c.3352= NM_005010.5:c.3352C>T
NRCAM transcript variant 2 NM_005010.4:c.3352= NM_005010.4:c.3352C>T
NRCAM transcript variant 1 NM_001037132.4:c.3715= NM_001037132.4:c.3715C>T
NRCAM transcript variant 1 NM_001037132.3:c.3715= NM_001037132.3:c.3715C>T
NRCAM transcript variant 1 NM_001037132.2:c.3715= NM_001037132.2:c.3715C>T
NRCAM transcript variant 4 NM_001193582.2:c.3436= NM_001193582.2:c.3436C>T
NRCAM transcript variant 4 NM_001193582.1:c.3436= NM_001193582.1:c.3436C>T
NRCAM transcript variant 5 NM_001193583.2:c.3379= NM_001193583.2:c.3379C>T
NRCAM transcript variant 5 NM_001193583.1:c.3379= NM_001193583.1:c.3379C>T
NRCAM transcript variant 6 NM_001193584.2:c.3343= NM_001193584.2:c.3343C>T
NRCAM transcript variant 6 NM_001193584.1:c.3343= NM_001193584.1:c.3343C>T
NRCAM transcript variant 27 NM_001371126.1:c.3658= NM_001371126.1:c.3658C>T
NRCAM transcript variant 18 NM_001371163.1:c.3379= NM_001371163.1:c.3379C>T
NRCAM transcript variant 7 NM_001371131.1:c.3715= NM_001371131.1:c.3715C>T
NRCAM transcript variant 70 NR_163868.1:n.4254= NR_163868.1:n.4254C>T
NRCAM transcript variant 58 NM_001371156.1:c.3724= NM_001371156.1:c.3724C>T
NRCAM transcript variant 13 NM_001371144.1:c.3436= NM_001371144.1:c.3436C>T
NRCAM transcript variant 62 NM_001371169.1:c.3679= NM_001371169.1:c.3679C>T
NRCAM transcript variant 28 NM_001371172.1:c.3658= NM_001371172.1:c.3658C>T
NRCAM transcript variant 56 NM_001371146.1:c.3622= NM_001371146.1:c.3622C>T
NRCAM transcript variant 8 NM_001371133.1:c.3352= NM_001371133.1:c.3352C>T
NRCAM transcript variant 71 NR_163869.1:n.4119= NR_163869.1:n.4119C>T
NRCAM transcript variant 14 NM_001371168.1:c.3436= NM_001371168.1:c.3436C>T
NRCAM transcript variant 41 NM_001371153.1:c.3400= NM_001371153.1:c.3400C>T
NRCAM transcript variant 12 NM_001371128.1:c.3436= NM_001371128.1:c.3436C>T
NRCAM transcript variant 51 NM_001371138.1:c.3553= NM_001371138.1:c.3553C>T
NRCAM transcript variant 19 NM_001371165.1:c.3379= NM_001371165.1:c.3379C>T
NRCAM transcript variant 16 NM_001371139.1:c.3379= NM_001371139.1:c.3379C>T
NRCAM transcript variant 60 NM_001371158.1:c.3532= NM_001371158.1:c.3532C>T
NRCAM transcript variant 17 NM_001371155.1:c.3379= NM_001371155.1:c.3379C>T
NRCAM transcript variant 45 NM_001371119.1:c.3667= NM_001371119.1:c.3667C>T
NRCAM transcript variant 26 NM_001371124.1:c.3658= NM_001371124.1:c.3658C>T
NRCAM transcript variant 55 NM_001371145.1:c.3505= NM_001371145.1:c.3505C>T
NRCAM transcript variant 20 NM_001371167.1:c.3379= NM_001371167.1:c.3379C>T
NRCAM transcript variant 23 NM_001371162.1:c.3343= NM_001371162.1:c.3343C>T
NRCAM transcript variant 73 NR_163871.1:n.4009= NR_163871.1:n.4009C>T
NRCAM transcript variant 49 NM_001371136.1:c.3478= NM_001371136.1:c.3478C>T
NRCAM transcript variant 32 NM_001371132.1:c.3355= NM_001371132.1:c.3355C>T
NRCAM transcript variant 52 NM_001371140.1:c.3469= NM_001371140.1:c.3469C>T
NRCAM transcript variant 10 NM_001371171.1:c.3352= NM_001371171.1:c.3352C>T
NRCAM transcript variant 36 NM_001371143.1:c.3370= NM_001371143.1:c.3370C>T
NRCAM transcript variant 25 NM_001371149.1:c.3445= NM_001371149.1:c.3445C>T
NRCAM transcript variant 69 NR_163867.1:n.3966= NR_163867.1:n.3966C>T
NRCAM transcript variant 72 NR_163870.1:n.3958= NR_163870.1:n.3958C>T
NRCAM transcript variant 46 NM_001371127.1:c.3433= NM_001371127.1:c.3433C>T
NRCAM transcript variant 33 NM_001371130.1:c.3361= NM_001371130.1:c.3361C>T
NRCAM transcript variant 57 NM_001371150.1:c.*63= NM_001371150.1:c.*63C>T
NRCAM transcript variant 37 NM_001371164.1:c.3370= NM_001371164.1:c.3370C>T
NRCAM transcript variant 64 NM_001371173.1:c.3412= NM_001371173.1:c.3412C>T
NRCAM transcript variant 59 NM_001371157.1:c.*63= NM_001371157.1:c.*63C>T
NRCAM transcript variant 53 NM_001371141.1:c.3352= NM_001371141.1:c.3352C>T
NRCAM transcript variant 42 NM_001371161.1:c.3400= NM_001371161.1:c.3400C>T
NRCAM transcript variant 39 NM_001371179.1:c.3082= NM_001371179.1:c.3082C>T
NRCAM transcript variant 61 NM_001371160.1:c.3394= NM_001371160.1:c.3394C>T
NRCAM transcript variant 48 NM_001371135.1:c.3388= NM_001371135.1:c.3388C>T
NRCAM transcript variant 68 NM_001371159.1:c.3379= NM_001371159.1:c.3379C>T
NRCAM transcript variant 30 NM_001371147.1:c.3091= NM_001371147.1:c.3091C>T
NRCAM transcript variant 65 NM_001371174.1:c.3370= NM_001371174.1:c.3370C>T
NRCAM transcript variant 34 NM_001371152.1:c.3361= NM_001371152.1:c.3361C>T
NRCAM transcript variant 31 NM_001371129.1:c.3355= NM_001371129.1:c.3355C>T
NRCAM transcript variant 47 NM_001371134.1:c.3349= NM_001371134.1:c.3349C>T
NRCAM transcript variant 54 NM_001371142.1:c.3064= NM_001371142.1:c.3064C>T
NRCAM transcript variant 24 NM_001371123.1:c.3445= NM_001371123.1:c.3445C>T
NRCAM transcript variant 22 NM_001371181.1:c.3379= NM_001371181.1:c.3379C>T
NRCAM transcript variant 44 NM_001371166.1:c.3166= NM_001371166.1:c.3166C>T
NRCAM transcript variant 15 NM_001371122.1:c.3379= NM_001371122.1:c.3379C>T
NRCAM transcript variant 67 NM_001371182.1:c.3304= NM_001371182.1:c.3304C>T
NRCAM transcript variant 9 NM_001371151.1:c.3352= NM_001371151.1:c.3352C>T
NRCAM transcript variant 50 NM_001371137.1:c.2443= NM_001371137.1:c.2443C>T
NRCAM transcript variant 29 NM_001371125.1:c.3091= NM_001371125.1:c.3091C>T
NRCAM transcript variant 43 NM_001371154.1:c.3166= NM_001371154.1:c.3166C>T
NRCAM transcript variant 63 NM_001371170.1:c.3094= NM_001371170.1:c.3094C>T
NRCAM transcript variant 38 NM_001371148.1:c.3082= NM_001371148.1:c.3082C>T
NRCAM transcript variant 21 NM_001371177.1:c.3379= NM_001371177.1:c.3379C>T
NRCAM transcript variant 35 NM_001371176.1:c.3361= NM_001371176.1:c.3361C>T
NRCAM transcript variant 11 NM_001371178.1:c.3352= NM_001371178.1:c.3352C>T
NRCAM transcript variant 66 NM_001371175.1:c.3052= NM_001371175.1:c.3052C>T
NRCAM transcript variant 40 NM_001371180.1:c.3082= NM_001371180.1:c.3082C>T
NRCAM transcript variant X1 XM_011516253.3:c.3736= XM_011516253.3:c.3736C>T
NRCAM transcript variant X1 XM_011516253.2:c.3736= XM_011516253.2:c.3736C>T
NRCAM transcript variant X1 XM_011516253.1:c.3736= XM_011516253.1:c.3736C>T
NRCAM transcript variant X3 XM_006716003.3:c.3727= XM_006716003.3:c.3727C>T
NRCAM transcript variant X3 XM_006716003.2:c.3727= XM_006716003.2:c.3727C>T
NRCAM transcript variant X3 XM_006716003.1:c.3727= XM_006716003.1:c.3727C>T
NRCAM transcript variant X4 XM_011516257.3:c.3718= XM_011516257.3:c.3718C>T
NRCAM transcript variant X5 XM_011516257.2:c.3718= XM_011516257.2:c.3718C>T
NRCAM transcript variant X5 XM_011516257.1:c.3718= XM_011516257.1:c.3718C>T
NRCAM transcript variant X6 XM_011516259.3:c.3706= XM_011516259.3:c.3706C>T
NRCAM transcript variant X8 XM_011516259.2:c.3706= XM_011516259.2:c.3706C>T
NRCAM transcript variant X8 XM_011516259.1:c.3706= XM_011516259.1:c.3706C>T
NRCAM transcript variant X7 XM_017012236.3:c.3697= XM_017012236.3:c.3697C>T
NRCAM transcript variant X9 XM_017012236.2:c.3697= XM_017012236.2:c.3697C>T
NRCAM transcript variant X9 XM_017012236.1:c.3697= XM_017012236.1:c.3697C>T
NRCAM transcript variant X8 XM_011516261.3:c.3688= XM_011516261.3:c.3688C>T
NRCAM transcript variant X11 XM_011516261.2:c.3688= XM_011516261.2:c.3688C>T
NRCAM transcript variant X11 XM_011516261.1:c.3688= XM_011516261.1:c.3688C>T
NRCAM transcript variant X9 XM_011516262.3:c.3679= XM_011516262.3:c.3679C>T
NRCAM transcript variant X13 XM_011516262.2:c.3679= XM_011516262.2:c.3679C>T
NRCAM transcript variant X13 XM_011516262.1:c.3679= XM_011516262.1:c.3679C>T
NRCAM transcript variant X10 XM_017012238.3:c.3667= XM_017012238.3:c.3667C>T
NRCAM transcript variant X14 XM_017012238.2:c.3667= XM_017012238.2:c.3667C>T
NRCAM transcript variant X14 XM_017012238.1:c.3667= XM_017012238.1:c.3667C>T
NRCAM transcript variant X12 XM_017012239.3:c.3661= XM_017012239.3:c.3661C>T
NRCAM transcript variant X15 XM_017012239.2:c.3661= XM_017012239.2:c.3661C>T
NRCAM transcript variant X15 XM_017012239.1:c.3661= XM_017012239.1:c.3661C>T
NRCAM transcript variant X17 XM_011516268.3:c.3448= XM_011516268.3:c.3448C>T
NRCAM transcript variant X23 XM_011516268.2:c.3448= XM_011516268.2:c.3448C>T
NRCAM transcript variant X22 XM_011516268.1:c.3448= XM_011516268.1:c.3448C>T
NRCAM transcript variant X15 XM_011516267.3:c.3457= XM_011516267.3:c.3457C>T
NRCAM transcript variant X21 XM_011516267.2:c.3457= XM_011516267.2:c.3457C>T
NRCAM transcript variant X24 XM_011516267.1:c.3457= XM_011516267.1:c.3457C>T
NRCAM transcript variant X16 XM_006716012.3:c.3448= XM_006716012.3:c.3448C>T
NRCAM transcript variant X22 XM_006716012.2:c.3448= XM_006716012.2:c.3448C>T
NRCAM transcript variant X25 XM_006716012.1:c.3448= XM_006716012.1:c.3448C>T
NRCAM transcript variant X18 XM_011516269.3:c.3421= XM_011516269.3:c.3421C>T
NRCAM transcript variant X25 XM_011516269.2:c.3421= XM_011516269.2:c.3421C>T
NRCAM transcript variant X28 XM_011516269.1:c.3421= XM_011516269.1:c.3421C>T
NRCAM transcript variant X19 XM_017012246.3:c.3418= XM_017012246.3:c.3418C>T
NRCAM transcript variant X26 XM_017012246.2:c.3418= XM_017012246.2:c.3418C>T
NRCAM transcript variant X29 XM_017012246.1:c.3418= XM_017012246.1:c.3418C>T
NRCAM transcript variant X20 XM_006716014.3:c.3412= XM_006716014.3:c.3412C>T
NRCAM transcript variant X27 XM_006716014.2:c.3412= XM_006716014.2:c.3412C>T
NRCAM transcript variant X30 XM_006716014.1:c.3412= XM_006716014.1:c.3412C>T
NRCAM transcript variant X21 XM_011516270.3:c.3409= XM_011516270.3:c.3409C>T
NRCAM transcript variant X28 XM_011516270.2:c.3409= XM_011516270.2:c.3409C>T
NRCAM transcript variant X31 XM_011516270.1:c.3409= XM_011516270.1:c.3409C>T
NRCAM transcript variant X24 XM_017012248.3:c.3391= XM_017012248.3:c.3391C>T
NRCAM transcript variant X31 XM_017012248.2:c.3391= XM_017012248.2:c.3391C>T
NRCAM transcript variant X34 XM_017012248.1:c.3391= XM_017012248.1:c.3391C>T
NRCAM transcript variant X23 XM_017012247.3:c.3391= XM_017012247.3:c.3391C>T
NRCAM transcript variant X30 XM_017012247.2:c.3391= XM_017012247.2:c.3391C>T
NRCAM transcript variant X33 XM_017012247.1:c.3391= XM_017012247.1:c.3391C>T
NRCAM transcript variant X25 XM_017012251.3:c.3382= XM_017012251.3:c.3382C>T
NRCAM transcript variant X34 XM_017012251.2:c.3382= XM_017012251.2:c.3382C>T
NRCAM transcript variant X37 XM_017012251.1:c.3382= XM_017012251.1:c.3382C>T
NRCAM transcript variant X2 XM_011516255.2:c.3736= XM_011516255.2:c.3736C>T
NRCAM transcript variant X2 XM_011516255.1:c.3736= XM_011516255.1:c.3736C>T
NRCAM transcript variant X5 XM_011516258.2:c.3718= XM_011516258.2:c.3718C>T
NRCAM transcript variant X6 XM_011516258.1:c.3718= XM_011516258.1:c.3718C>T
NRCAM transcript variant X26 XM_024446777.2:c.3382= XM_024446777.2:c.3382C>T
NRCAM transcript variant X39 XM_024446777.1:c.3382= XM_024446777.1:c.3382C>T
NRCAM transcript variant X28 XM_024446778.2:c.3364= XM_024446778.2:c.3364C>T
NRCAM transcript variant X42 XM_024446778.1:c.3364= XM_024446778.1:c.3364C>T
NRCAM transcript variant X33 XM_024446779.2:c.3304= XM_024446779.2:c.3304C>T
NRCAM transcript variant X43 XM_024446779.1:c.3304= XM_024446779.1:c.3304C>T
NRCAM transcript variant X11 XM_047420417.1:c.3679= XM_047420417.1:c.3679C>T
NRCAM transcript variant X13 XM_047420418.1:c.3649= XM_047420418.1:c.3649C>T
NRCAM transcript variant X22 XM_047420419.1:c.3406= XM_047420419.1:c.3406C>T
NRCAM transcript variant X27 XM_047420420.1:c.3352= XM_047420420.1:c.3352C>T
NRCAM transcript variant X30 XM_047420422.1:c.3331= XM_047420422.1:c.3331C>T
NRCAM transcript variant X32 XM_047420424.1:c.3325= XM_047420424.1:c.3325C>T
NRCAM transcript variant X29 XM_047420421.1:c.3322= XM_047420421.1:c.3322C>T
NRCAM transcript variant X31 XM_047420423.1:c.3313= XM_047420423.1:c.3313C>T
NRCAM transcript variant X34 XM_047420425.1:c.3295= XM_047420425.1:c.3295C>T
NRCAM transcript variant 3 NM_001037133.1:c.64= NM_001037133.1:c.64C>T
neuronal cell adhesion molecule isoform B precursor NP_005001.3:p.Arg1118= NP_005001.3:p.Arg1118Ter
neuronal cell adhesion molecule isoform A precursor NP_001032209.1:p.Arg1239= NP_001032209.1:p.Arg1239Ter
neuronal cell adhesion molecule isoform D precursor NP_001180511.1:p.Arg1146= NP_001180511.1:p.Arg1146Ter
neuronal cell adhesion molecule isoform E precursor NP_001180512.1:p.Arg1127= NP_001180512.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform F precursor NP_001180513.1:p.Arg1115= NP_001180513.1:p.Arg1115Ter
neuronal cell adhesion molecule isoform H precursor NP_001358055.1:p.Arg1220= NP_001358055.1:p.Arg1220Ter
neuronal cell adhesion molecule isoform E precursor NP_001358092.1:p.Arg1127= NP_001358092.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform A precursor NP_001358060.1:p.Arg1239= NP_001358060.1:p.Arg1239Ter
neuronal cell adhesion molecule isoform cc precursor NP_001358085.1:p.Arg1242= NP_001358085.1:p.Arg1242Ter
neuronal cell adhesion molecule isoform D precursor NP_001358073.1:p.Arg1146= NP_001358073.1:p.Arg1146Ter
neuronal cell adhesion molecule isoform gg precursor NP_001358098.1:p.Arg1227= NP_001358098.1:p.Arg1227Ter
neuronal cell adhesion molecule isoform H precursor NP_001358101.1:p.Arg1220= NP_001358101.1:p.Arg1220Ter
neuronal cell adhesion molecule isoform aa precursor NP_001358075.1:p.Arg1208= NP_001358075.1:p.Arg1208Ter
neuronal cell adhesion molecule isoform B precursor NP_001358062.1:p.Arg1118= NP_001358062.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform D precursor NP_001358097.1:p.Arg1146= NP_001358097.1:p.Arg1146Ter
neuronal cell adhesion molecule isoform N precursor NP_001358082.1:p.Arg1134= NP_001358082.1:p.Arg1134Ter
neuronal cell adhesion molecule isoform D precursor NP_001358057.1:p.Arg1146= NP_001358057.1:p.Arg1146Ter
neuronal cell adhesion molecule isoform V precursor NP_001358067.1:p.Arg1185= NP_001358067.1:p.Arg1185Ter
neuronal cell adhesion molecule isoform E precursor NP_001358094.1:p.Arg1127= NP_001358094.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform E precursor NP_001358068.1:p.Arg1127= NP_001358068.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform ee precursor NP_001358087.1:p.Arg1178= NP_001358087.1:p.Arg1178Ter
neuronal cell adhesion molecule isoform E precursor NP_001358084.1:p.Arg1127= NP_001358084.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform P precursor NP_001358048.1:p.Arg1223= NP_001358048.1:p.Arg1223Ter
neuronal cell adhesion molecule isoform H precursor NP_001358053.1:p.Arg1220= NP_001358053.1:p.Arg1220Ter
neuronal cell adhesion molecule isoform Z precursor NP_001358074.1:p.Arg1169= NP_001358074.1:p.Arg1169Ter
neuronal cell adhesion molecule isoform E precursor NP_001358096.1:p.Arg1127= NP_001358096.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform F precursor NP_001358091.1:p.Arg1115= NP_001358091.1:p.Arg1115Ter
neuronal cell adhesion molecule isoform T precursor NP_001358065.1:p.Arg1160= NP_001358065.1:p.Arg1160Ter
neuronal cell adhesion molecule isoform J precursor NP_001358061.1:p.Arg1119= NP_001358061.1:p.Arg1119Ter
neuronal cell adhesion molecule isoform W precursor NP_001358069.1:p.Arg1157= NP_001358069.1:p.Arg1157Ter
neuronal cell adhesion molecule isoform B precursor NP_001358100.1:p.Arg1118= NP_001358100.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform L NP_001358072.1:p.Arg1124= NP_001358072.1:p.Arg1124Ter
neuronal cell adhesion molecule isoform G precursor NP_001358078.1:p.Arg1149= NP_001358078.1:p.Arg1149Ter
neuronal cell adhesion molecule isoform Q precursor NP_001358056.1:p.Arg1145= NP_001358056.1:p.Arg1145Ter
neuronal cell adhesion molecule isoform K precursor NP_001358059.1:p.Arg1121= NP_001358059.1:p.Arg1121Ter
neuronal cell adhesion molecule isoform L NP_001358093.1:p.Arg1124= NP_001358093.1:p.Arg1124Ter
neuronal cell adhesion molecule isoform ii precursor NP_001358102.1:p.Arg1138= NP_001358102.1:p.Arg1138Ter
neuronal cell adhesion molecule isoform X precursor NP_001358070.1:p.Arg1118= NP_001358070.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform N precursor NP_001358090.1:p.Arg1134= NP_001358090.1:p.Arg1134Ter
neuronal cell adhesion molecule isoform M NP_001358108.1:p.Arg1028= NP_001358108.1:p.Arg1028Ter
neuronal cell adhesion molecule isoform ff precursor NP_001358089.1:p.Arg1132= NP_001358089.1:p.Arg1132Ter
neuronal cell adhesion molecule isoform S precursor NP_001358064.1:p.Arg1130= NP_001358064.1:p.Arg1130Ter
neuronal cell adhesion molecule isoform ll precursor NP_001358088.1:p.Arg1127= NP_001358088.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform I NP_001358076.1:p.Arg1031= NP_001358076.1:p.Arg1031Ter
neuronal cell adhesion molecule isoform jj precursor NP_001358103.1:p.Arg1124= NP_001358103.1:p.Arg1124Ter
neuronal cell adhesion molecule isoform K precursor NP_001358081.1:p.Arg1121= NP_001358081.1:p.Arg1121Ter
neuronal cell adhesion molecule isoform J precursor NP_001358058.1:p.Arg1119= NP_001358058.1:p.Arg1119Ter
neuronal cell adhesion molecule isoform R precursor NP_001358063.1:p.Arg1117= NP_001358063.1:p.Arg1117Ter
neuronal cell adhesion molecule isoform Y NP_001358071.1:p.Arg1022= NP_001358071.1:p.Arg1022Ter
neuronal cell adhesion molecule isoform G precursor NP_001358052.1:p.Arg1149= NP_001358052.1:p.Arg1149Ter
neuronal cell adhesion molecule isoform E precursor NP_001358110.1:p.Arg1127= NP_001358110.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform O precursor NP_001358095.1:p.Arg1056= NP_001358095.1:p.Arg1056Ter
neuronal cell adhesion molecule isoform E precursor NP_001358051.1:p.Arg1127= NP_001358051.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform mm precursor NP_001358111.1:p.Arg1102= NP_001358111.1:p.Arg1102Ter
neuronal cell adhesion molecule isoform B precursor NP_001358080.1:p.Arg1118= NP_001358080.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform U NP_001358066.1:p.Arg815= NP_001358066.1:p.Arg815Ter
neuronal cell adhesion molecule isoform I NP_001358054.1:p.Arg1031= NP_001358054.1:p.Arg1031Ter
neuronal cell adhesion molecule isoform O precursor NP_001358083.1:p.Arg1056= NP_001358083.1:p.Arg1056Ter
neuronal cell adhesion molecule isoform hh NP_001358099.1:p.Arg1032= NP_001358099.1:p.Arg1032Ter
neuronal cell adhesion molecule isoform M NP_001358077.1:p.Arg1028= NP_001358077.1:p.Arg1028Ter
neuronal cell adhesion molecule isoform E precursor NP_001358106.1:p.Arg1127= NP_001358106.1:p.Arg1127Ter
neuronal cell adhesion molecule isoform K precursor NP_001358105.1:p.Arg1121= NP_001358105.1:p.Arg1121Ter
neuronal cell adhesion molecule isoform B precursor NP_001358107.1:p.Arg1118= NP_001358107.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform kk precursor NP_001358104.1:p.Arg1018= NP_001358104.1:p.Arg1018Ter
neuronal cell adhesion molecule isoform M NP_001358109.1:p.Arg1028= NP_001358109.1:p.Arg1028Ter
neuronal cell adhesion molecule isoform X1 XP_011514555.1:p.Arg1246= XP_011514555.1:p.Arg1246Ter
neuronal cell adhesion molecule isoform X2 XP_006716066.1:p.Arg1243= XP_006716066.1:p.Arg1243Ter
neuronal cell adhesion molecule isoform X3 XP_011514559.1:p.Arg1240= XP_011514559.1:p.Arg1240Ter
neuronal cell adhesion molecule isoform X4 XP_011514561.1:p.Arg1236= XP_011514561.1:p.Arg1236Ter
neuronal cell adhesion molecule isoform X5 XP_016867725.1:p.Arg1233= XP_016867725.1:p.Arg1233Ter
neuronal cell adhesion molecule isoform X6 XP_011514563.1:p.Arg1230= XP_011514563.1:p.Arg1230Ter
neuronal cell adhesion molecule isoform X7 XP_011514564.1:p.Arg1227= XP_011514564.1:p.Arg1227Ter
neuronal cell adhesion molecule isoform X8 XP_016867727.1:p.Arg1223= XP_016867727.1:p.Arg1223Ter
neuronal cell adhesion molecule isoform X10 XP_016867728.1:p.Arg1221= XP_016867728.1:p.Arg1221Ter
neuronal cell adhesion molecule isoform X15 XP_011514570.1:p.Arg1150= XP_011514570.1:p.Arg1150Ter
neuronal cell adhesion molecule isoform X13 XP_011514569.1:p.Arg1153= XP_011514569.1:p.Arg1153Ter
neuronal cell adhesion molecule isoform X14 XP_006716075.1:p.Arg1150= XP_006716075.1:p.Arg1150Ter
neuronal cell adhesion molecule isoform X16 XP_011514571.1:p.Arg1141= XP_011514571.1:p.Arg1141Ter
neuronal cell adhesion molecule isoform X17 XP_016867735.1:p.Arg1140= XP_016867735.1:p.Arg1140Ter
neuronal cell adhesion molecule isoform X18 XP_006716077.1:p.Arg1138= XP_006716077.1:p.Arg1138Ter
neuronal cell adhesion molecule isoform X19 XP_011514572.1:p.Arg1137= XP_011514572.1:p.Arg1137Ter
neuronal cell adhesion molecule isoform X22 XP_016867737.1:p.Arg1131= XP_016867737.1:p.Arg1131Ter
neuronal cell adhesion molecule isoform X21 XP_016867736.1:p.Arg1131= XP_016867736.1:p.Arg1131Ter
neuronal cell adhesion molecule isoform X23 XP_016867740.1:p.Arg1128= XP_016867740.1:p.Arg1128Ter
neuronal cell adhesion molecule isoform X1 XP_011514557.1:p.Arg1246= XP_011514557.1:p.Arg1246Ter
neuronal cell adhesion molecule isoform X3 XP_011514560.1:p.Arg1240= XP_011514560.1:p.Arg1240Ter
neuronal cell adhesion molecule isoform X24 XP_024302545.1:p.Arg1128= XP_024302545.1:p.Arg1128Ter
neuronal cell adhesion molecule isoform X26 XP_024302546.1:p.Arg1122= XP_024302546.1:p.Arg1122Ter
neuronal cell adhesion molecule isoform X31 XP_024302547.1:p.Arg1102= XP_024302547.1:p.Arg1102Ter
neuronal cell adhesion molecule isoform X9 XP_047276373.1:p.Arg1227= XP_047276373.1:p.Arg1227Ter
neuronal cell adhesion molecule isoform X11 XP_047276374.1:p.Arg1217= XP_047276374.1:p.Arg1217Ter
neuronal cell adhesion molecule isoform X20 XP_047276375.1:p.Arg1136= XP_047276375.1:p.Arg1136Ter
neuronal cell adhesion molecule isoform X25 XP_047276376.1:p.Arg1118= XP_047276376.1:p.Arg1118Ter
neuronal cell adhesion molecule isoform X28 XP_047276378.1:p.Arg1111= XP_047276378.1:p.Arg1111Ter
neuronal cell adhesion molecule isoform X30 XP_047276380.1:p.Arg1109= XP_047276380.1:p.Arg1109Ter
neuronal cell adhesion molecule isoform X27 XP_047276377.1:p.Arg1108= XP_047276377.1:p.Arg1108Ter
neuronal cell adhesion molecule isoform X29 XP_047276379.1:p.Arg1105= XP_047276379.1:p.Arg1105Ter
neuronal cell adhesion molecule isoform X32 XP_047276381.1:p.Arg1099= XP_047276381.1:p.Arg1099Ter
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4758624744 Apr 26, 2021 (155)
2 TOMMO_GENOMICS ss5184954081 Apr 26, 2021 (155)
3 TOMMO_GENOMICS ss5725763479 Oct 17, 2022 (156)
4 8.3KJPN NC_000007.13 - 107790555 Apr 26, 2021 (155)
5 14KJPN NC_000007.14 - 108150110 Oct 17, 2022 (156)
6 TopMed NC_000007.14 - 108150110 Apr 26, 2021 (155)
7 ALFA NC_000007.14 - 108150110 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
42923388, ss5184954081 NC_000007.13:107790554:G:A NC_000007.14:108150109:G:A (self)
59600583, 596002303, 4347262743, ss4758624744, ss5725763479 NC_000007.14:108150109:G:A NC_000007.14:108150109:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483465263

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d