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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.

rs754195258

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:209695862 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.000020 (5/250706, GnomAD_exome)
G=0.000025 (3/120752, ExAC) (+ 1 more)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAP2 : Missense Variant
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 A=1.00000 G=0.00000
European Sub 6962 A=1.0000 G=0.0000
African Sub 2294 A=1.0000 G=0.0000
African Others Sub 84 A=1.00 G=0.00
African American Sub 2210 A=1.0000 G=0.0000
Asian Sub 108 A=1.000 G=0.000
East Asian Sub 84 A=1.00 G=0.00
Other Asian Sub 24 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 94 A=1.00 G=0.00
Other Sub 466 A=1.000 G=0.000


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 A=0.999996 G=0.000004
gnomAD - Exomes Global Study-wide 250706 A=0.999980 G=0.000020
gnomAD - Exomes European Sub 134752 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48984 A=0.99990 G=0.00010
gnomAD - Exomes American Sub 34570 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16230 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6112 A=1.0000 G=0.0000
ExAC Global Study-wide 120752 A=0.999975 G=0.000025
ExAC Europe Sub 72962 A=1.00000 G=0.00000
ExAC Asian Sub 25082 A=0.99988 G=0.00012
ExAC American Sub 11534 A=1.00000 G=0.00000
ExAC African Sub 10270 A=1.00000 G=0.00000
ExAC Other Sub 904 A=1.000 G=0.000
Allele Frequency Aggregator Total Global 10680 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=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 2 NC_000002.12:g.209695862A>G
GRCh37.p13 chr 2 NC_000002.11:g.210560586A>G
MAP2 RefSeqGene NG_052836.1:g.276816A>G
Gene: MAP2, microtubule associated protein 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAP2 transcript variant 5 NM_001039538.2:c.455-4415…

NM_001039538.2:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 8 NM_001363913.2:c.455-4415…

NM_001363913.2:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 48 NM_001375474.1:c.455-4415…

NM_001375474.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 11 NM_001375493.1:c.455-4415…

NM_001375493.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 59 NM_001375494.1:c.455-4415…

NM_001375494.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 42 NM_001375495.1:c.455-680A…

NM_001375495.1:c.455-680A>G

N/A Intron Variant
MAP2 transcript variant 49 NM_001375496.1:c.455-4418…

NM_001375496.1:c.455-4418A>G

N/A Intron Variant
MAP2 transcript variant 55 NM_001375497.1:c.452-4415…

NM_001375497.1:c.452-4415A>G

N/A Intron Variant
MAP2 transcript variant 40 NM_001375498.1:c.452-680A…

NM_001375498.1:c.452-680A>G

N/A Intron Variant
MAP2 transcript variant 14 NM_001375499.1:c.455-4415…

NM_001375499.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 15 NM_001375508.1:c.455-4415…

NM_001375508.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 47 NM_001375509.1:c.545-1055…

NM_001375509.1:c.545-1055A>G

N/A Intron Variant
MAP2 transcript variant 43 NM_001375510.1:c.455-680A…

NM_001375510.1:c.455-680A>G

N/A Intron Variant
MAP2 transcript variant 51 NM_001375529.1:c.452-4415…

NM_001375529.1:c.452-4415A>G

N/A Intron Variant
MAP2 transcript variant 52 NM_001375530.1:c.455-4418…

NM_001375530.1:c.455-4418A>G

N/A Intron Variant
MAP2 transcript variant 53 NM_001375532.1:c.455-4418…

NM_001375532.1:c.455-4418A>G

N/A Intron Variant
MAP2 transcript variant 54 NM_001375533.1:c.452-4415…

NM_001375533.1:c.452-4415A>G

N/A Intron Variant
MAP2 transcript variant 46 NM_001375535.1:c.698-4415…

NM_001375535.1:c.698-4415A>G

N/A Intron Variant
MAP2 transcript variant 44 NM_001375536.1:c.455-680A…

NM_001375536.1:c.455-680A>G

N/A Intron Variant
MAP2 transcript variant 45 NM_001375538.1:c.455-680A…

NM_001375538.1:c.455-680A>G

N/A Intron Variant
MAP2 transcript variant 41 NM_001375540.1:c.452-680A…

NM_001375540.1:c.452-680A>G

N/A Intron Variant
MAP2 transcript variant 50 NM_001375541.1:c.455-1055…

NM_001375541.1:c.455-1055A>G

N/A Intron Variant
MAP2 transcript variant 56 NM_001375542.1:c.452-4418…

NM_001375542.1:c.452-4418A>G

N/A Intron Variant
MAP2 transcript variant 57 NM_001375553.1:c.-17-680A…

NM_001375553.1:c.-17-680A>G

N/A Intron Variant
MAP2 transcript variant 58 NM_001375554.1:c.-17-680A…

NM_001375554.1:c.-17-680A>G

N/A Intron Variant
MAP2 transcript variant 60 NM_001375583.1:c.455-4415…

NM_001375583.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant 2 NM_031845.3:c.455-4415A>G N/A Intron Variant
MAP2 transcript variant 4 NM_031847.3:c.455-4415A>G N/A Intron Variant
MAP2 transcript variant 35 NM_001375557.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 16 NP_001362486.1:p.Glu1073G…

NP_001362486.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 1 NM_002374.4:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 1 NP_002365.3:p.Glu1231Gly E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 10 NM_001375534.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 1 NP_001362463.1:p.Glu1231G…

NP_001362463.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 33 NM_001375555.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 15 NP_001362484.1:p.Glu1073G…

NP_001362484.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 17 NM_001375504.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 7 NP_001362433.1:p.Glu1231G…

NP_001362433.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 16 NM_001375528.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 6 NP_001362457.1:p.Glu1227G…

NP_001362457.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 26 NM_001375506.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 12 NP_001362435.1:p.Glu1231G…

NP_001362435.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 67 NM_001375505.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 1 NP_001362434.1:p.Glu1231G…

NP_001362434.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 39 NM_001375500.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 18 NP_001362429.1:p.Glu1227G…

NP_001362429.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 30 NM_001375548.1:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 33 NP_001362477.1:p.Glu1226G…

NP_001362477.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 23 NM_001375527.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 12 NP_001362456.1:p.Glu1231G…

NP_001362456.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 24 NM_001375543.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 31 NP_001362472.1:p.Glu1231G…

NP_001362472.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 6 NM_001363910.2:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 6 NP_001350839.1:p.Glu1227G…

NP_001350839.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 7 NM_001363911.2:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 6 NP_001350840.1:p.Glu1227G…

NP_001350840.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 36 NM_001375551.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 16 NP_001362480.1:p.Glu1073G…

NP_001362480.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 21 NM_001375539.1:c.3926A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 10 NP_001362468.1:p.Glu1309G…

NP_001362468.1:p.Glu1309Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 34 NM_001375556.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 16 NP_001362485.1:p.Glu1073G…

NP_001362485.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 32 NM_001375507.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 14 NP_001362436.1:p.Glu1227G…

NP_001362436.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 29 NM_001375546.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 32 NP_001362475.1:p.Glu1227G…

NP_001362475.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 18 NM_001375537.1:c.3938A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 8 NP_001362466.1:p.Glu1313G…

NP_001362466.1:p.Glu1313Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 9 NM_001375526.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 1 NP_001362455.1:p.Glu1231G…

NP_001362455.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 19 NM_001375501.1:c.3938A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 8 NP_001362430.1:p.Glu1313G…

NP_001362430.1:p.Glu1313Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 37 NM_001375558.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 17 NP_001362487.1:p.Glu1073G…

NP_001362487.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 22 NM_001375503.1:c.3923A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 11 NP_001362432.1:p.Glu1308G…

NP_001362432.1:p.Glu1308Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 38 NM_001375559.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 34 NP_001362488.1:p.Glu1073G…

NP_001362488.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 12 NM_001375552.1:c.3218A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 16 NP_001362481.1:p.Glu1073G…

NP_001362481.1:p.Glu1073Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 20 NM_001375531.1:c.3938A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 9 NP_001362460.1:p.Glu1313G…

NP_001362460.1:p.Glu1313Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 31 NM_001375502.1:c.3689A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 13 NP_001362431.1:p.Glu1230G…

NP_001362431.1:p.Glu1230Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 25 NM_001375544.1:c.3689A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 13 NP_001362473.1:p.Glu1230G…

NP_001362473.1:p.Glu1230Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 28 NM_001375545.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform 14 NP_001362474.1:p.Glu1227G…

NP_001362474.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant 61 NR_164694.1:n. N/A Intron Variant
MAP2 transcript variant 62 NR_164695.1:n. N/A Intron Variant
MAP2 transcript variant 63 NR_164696.1:n. N/A Intron Variant
MAP2 transcript variant 64 NR_164697.1:n. N/A Intron Variant
MAP2 transcript variant 65 NR_164698.1:n. N/A Intron Variant
MAP2 transcript variant 66 NR_164699.1:n. N/A Intron Variant
MAP2 transcript variant X22 XM_047444390.1:c.455-4415…

XM_047444390.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant X23 XM_047444391.1:c.455-4415…

XM_047444391.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant X24 XM_047444392.1:c.455-4415…

XM_047444392.1:c.455-4415A>G

N/A Intron Variant
MAP2 transcript variant X25 XM_047444393.1:c.455-4418…

XM_047444393.1:c.455-4418A>G

N/A Intron Variant
MAP2 transcript variant X1 XM_017004112.3:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X1 XP_016859601.1:p.Glu1231G…

XP_016859601.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X2 XM_024452893.2:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X1 XP_024308661.1:p.Glu1231G…

XP_024308661.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X3 XM_011511195.3:c.3689A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X2 XP_011509497.1:p.Glu1230G…

XP_011509497.1:p.Glu1230Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X4 XM_024452894.2:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X3 XP_024308662.1:p.Glu1227G…

XP_024308662.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X5 XM_011511196.4:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X3 XP_011509498.1:p.Glu1227G…

XP_011509498.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X6 XM_047444386.1:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X3 XP_047300342.1:p.Glu1227G…

XP_047300342.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X7 XM_017004113.3:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X4 XP_016859602.1:p.Glu1226G…

XP_016859602.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X8 XM_024452895.2:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X4 XP_024308663.1:p.Glu1226G…

XP_024308663.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X9 XM_011511197.4:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X4 XP_011509499.1:p.Glu1226G…

XP_011509499.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X10 XM_047444387.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X5 XP_047300343.1:p.Glu1231G…

XP_047300343.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X11 XM_024452896.2:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X6 XP_024308664.1:p.Glu1231G…

XP_024308664.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X12 XM_017004114.3:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X6 XP_016859603.1:p.Glu1231G…

XP_016859603.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X13 XM_047444388.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X7 XP_047300344.1:p.Glu1231G…

XP_047300344.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X14 XM_047444389.1:c.3692A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X7 XP_047300345.1:p.Glu1231G…

XP_047300345.1:p.Glu1231Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X15 XM_024452897.2:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X8 XP_024308665.1:p.Glu1227G…

XP_024308665.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X16 XM_024452899.2:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X9 XP_024308667.1:p.Glu1226G…

XP_024308667.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X17 XM_017004116.3:c.3680A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X10 XP_016859605.1:p.Glu1227G…

XP_016859605.1:p.Glu1227Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X18 XM_024452902.2:c.3689A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X11 XP_024308670.1:p.Glu1230G…

XP_024308670.1:p.Glu1230Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X19 XM_024452907.2:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X12 XP_024308675.1:p.Glu1226G…

XP_024308675.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X20 XM_017004128.3:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X13 XP_016859617.1:p.Glu1226G…

XP_016859617.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
MAP2 transcript variant X21 XM_017004129.3:c.3677A>G E [GAG] > G [GGG] Coding Sequence Variant
microtubule-associated protein 2 isoform X14 XP_016859618.1:p.Glu1226G…

XP_016859618.1:p.Glu1226Gly

E (Glu) > G (Gly) Missense Variant
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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
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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 A= G
GRCh38.p14 chr 2 NC_000002.12:g.209695862= NC_000002.12:g.209695862A>G
GRCh37.p13 chr 2 NC_000002.11:g.210560586= NC_000002.11:g.210560586A>G
MAP2 RefSeqGene NG_052836.1:g.276816= NG_052836.1:g.276816A>G
MAP2 transcript variant 1 NM_002374.4:c.3692= NM_002374.4:c.3692A>G
MAP2 transcript variant 1 NM_002374.3:c.3692= NM_002374.3:c.3692A>G
MAP2 transcript variant 6 NM_001363910.2:c.3680= NM_001363910.2:c.3680A>G
MAP2 transcript variant 6 NM_001363910.1:c.3680= NM_001363910.1:c.3680A>G
MAP2 transcript variant 7 NM_001363911.2:c.3680= NM_001363911.2:c.3680A>G
MAP2 transcript variant 7 NM_001363911.1:c.3680= NM_001363911.1:c.3680A>G
MAP2 transcript variant 17 NM_001375504.1:c.3692= NM_001375504.1:c.3692A>G
MAP2 transcript variant 19 NM_001375501.1:c.3938= NM_001375501.1:c.3938A>G
MAP2 transcript variant 22 NM_001375503.1:c.3923= NM_001375503.1:c.3923A>G
MAP2 transcript variant 18 NM_001375537.1:c.3938= NM_001375537.1:c.3938A>G
MAP2 transcript variant 20 NM_001375531.1:c.3938= NM_001375531.1:c.3938A>G
MAP2 transcript variant 21 NM_001375539.1:c.3926= NM_001375539.1:c.3926A>G
MAP2 transcript variant 67 NM_001375505.1:c.3692= NM_001375505.1:c.3692A>G
MAP2 transcript variant 26 NM_001375506.1:c.3692= NM_001375506.1:c.3692A>G
MAP2 transcript variant 32 NM_001375507.1:c.3680= NM_001375507.1:c.3680A>G
MAP2 transcript variant 31 NM_001375502.1:c.3689= NM_001375502.1:c.3689A>G
MAP2 transcript variant 10 NM_001375534.1:c.3692= NM_001375534.1:c.3692A>G
MAP2 transcript variant 25 NM_001375544.1:c.3689= NM_001375544.1:c.3689A>G
MAP2 transcript variant 24 NM_001375543.1:c.3692= NM_001375543.1:c.3692A>G
MAP2 transcript variant 30 NM_001375548.1:c.3677= NM_001375548.1:c.3677A>G
MAP2 transcript variant 29 NM_001375546.1:c.3680= NM_001375546.1:c.3680A>G
MAP2 transcript variant 28 NM_001375545.1:c.3680= NM_001375545.1:c.3680A>G
MAP2 transcript variant 9 NM_001375526.1:c.3692= NM_001375526.1:c.3692A>G
MAP2 transcript variant 23 NM_001375527.1:c.3692= NM_001375527.1:c.3692A>G
MAP2 transcript variant 16 NM_001375528.1:c.3680= NM_001375528.1:c.3680A>G
MAP2 transcript variant 12 NM_001375552.1:c.3218= NM_001375552.1:c.3218A>G
MAP2 transcript variant 33 NM_001375555.1:c.3218= NM_001375555.1:c.3218A>G
MAP2 transcript variant 34 NM_001375556.1:c.3218= NM_001375556.1:c.3218A>G
MAP2 transcript variant 37 NM_001375558.1:c.3218= NM_001375558.1:c.3218A>G
MAP2 transcript variant 36 NM_001375551.1:c.3218= NM_001375551.1:c.3218A>G
MAP2 transcript variant 35 NM_001375557.1:c.3218= NM_001375557.1:c.3218A>G
MAP2 transcript variant 38 NM_001375559.1:c.3218= NM_001375559.1:c.3218A>G
MAP2 transcript variant 39 NM_001375500.1:c.3680= NM_001375500.1:c.3680A>G
MAP2 transcript variant X5 XM_011511196.4:c.3680= XM_011511196.4:c.3680A>G
MAP2 transcript variant X6 XM_011511196.3:c.3680= XM_011511196.3:c.3680A>G
MAP2 transcript variant X13 XM_011511196.2:c.3680= XM_011511196.2:c.3680A>G
MAP2 transcript variant X13 XM_011511196.1:c.3680= XM_011511196.1:c.3680A>G
MAP2 transcript variant X9 XM_011511197.4:c.3677= XM_011511197.4:c.3677A>G
MAP2 transcript variant X8 XM_011511197.3:c.3677= XM_011511197.3:c.3677A>G
MAP2 transcript variant X14 XM_011511197.2:c.3677= XM_011511197.2:c.3677A>G
MAP2 transcript variant X14 XM_011511197.1:c.3677= XM_011511197.1:c.3677A>G
MAP2 transcript variant X3 XM_011511195.3:c.3689= XM_011511195.3:c.3689A>G
MAP2 transcript variant X4 XM_011511195.2:c.3689= XM_011511195.2:c.3689A>G
MAP2 transcript variant X12 XM_011511195.1:c.3689= XM_011511195.1:c.3689A>G
MAP2 transcript variant X1 XM_017004112.3:c.3692= XM_017004112.3:c.3692A>G
MAP2 transcript variant X2 XM_017004112.2:c.3692= XM_017004112.2:c.3692A>G
MAP2 transcript variant X11 XM_017004112.1:c.3692= XM_017004112.1:c.3692A>G
MAP2 transcript variant X17 XM_017004116.3:c.3680= XM_017004116.3:c.3680A>G
MAP2 transcript variant X13 XM_017004116.2:c.3680= XM_017004116.2:c.3680A>G
MAP2 transcript variant X18 XM_017004116.1:c.3680= XM_017004116.1:c.3680A>G
MAP2 transcript variant X7 XM_017004113.3:c.3677= XM_017004113.3:c.3677A>G
MAP2 transcript variant X9 XM_017004113.2:c.3677= XM_017004113.2:c.3677A>G
MAP2 transcript variant X15 XM_017004113.1:c.3677= XM_017004113.1:c.3677A>G
MAP2 transcript variant X20 XM_017004128.3:c.3677= XM_017004128.3:c.3677A>G
MAP2 transcript variant X32 XM_017004128.2:c.3677= XM_017004128.2:c.3677A>G
MAP2 transcript variant X30 XM_017004128.1:c.3677= XM_017004128.1:c.3677A>G
MAP2 transcript variant X21 XM_017004129.3:c.3677= XM_017004129.3:c.3677A>G
MAP2 transcript variant X33 XM_017004129.2:c.3677= XM_017004129.2:c.3677A>G
MAP2 transcript variant X31 XM_017004129.1:c.3677= XM_017004129.1:c.3677A>G
MAP2 transcript variant X12 XM_017004114.3:c.3692= XM_017004114.3:c.3692A>G
MAP2 transcript variant X11 XM_017004114.2:c.3692= XM_017004114.2:c.3692A>G
MAP2 transcript variant X16 XM_017004114.1:c.3692= XM_017004114.1:c.3692A>G
MAP2 transcript variant X4 XM_024452894.2:c.3680= XM_024452894.2:c.3680A>G
MAP2 transcript variant X5 XM_024452894.1:c.3680= XM_024452894.1:c.3680A>G
MAP2 transcript variant X8 XM_024452895.2:c.3677= XM_024452895.2:c.3677A>G
MAP2 transcript variant X7 XM_024452895.1:c.3677= XM_024452895.1:c.3677A>G
MAP2 transcript variant X11 XM_024452896.2:c.3692= XM_024452896.2:c.3692A>G
MAP2 transcript variant X10 XM_024452896.1:c.3692= XM_024452896.1:c.3692A>G
MAP2 transcript variant X2 XM_024452893.2:c.3692= XM_024452893.2:c.3692A>G
MAP2 transcript variant X3 XM_024452893.1:c.3692= XM_024452893.1:c.3692A>G
MAP2 transcript variant X15 XM_024452897.2:c.3680= XM_024452897.2:c.3680A>G
MAP2 transcript variant X12 XM_024452897.1:c.3680= XM_024452897.1:c.3680A>G
MAP2 transcript variant X16 XM_024452899.2:c.3677= XM_024452899.2:c.3677A>G
MAP2 transcript variant X14 XM_024452899.1:c.3677= XM_024452899.1:c.3677A>G
MAP2 transcript variant X18 XM_024452902.2:c.3689= XM_024452902.2:c.3689A>G
MAP2 transcript variant X18 XM_024452902.1:c.3689= XM_024452902.1:c.3689A>G
MAP2 transcript variant X19 XM_024452907.2:c.3677= XM_024452907.2:c.3677A>G
MAP2 transcript variant X28 XM_024452907.1:c.3677= XM_024452907.1:c.3677A>G
MAP2 transcript variant X10 XM_047444387.1:c.3692= XM_047444387.1:c.3692A>G
MAP2 transcript variant X13 XM_047444388.1:c.3692= XM_047444388.1:c.3692A>G
MAP2 transcript variant X6 XM_047444386.1:c.3680= XM_047444386.1:c.3680A>G
MAP2 transcript variant X14 XM_047444389.1:c.3692= XM_047444389.1:c.3692A>G
MAP2 transcript variant 3 NM_031846.1:c.3692= NM_031846.1:c.3692A>G
microtubule-associated protein 2 isoform 1 NP_002365.3:p.Glu1231= NP_002365.3:p.Glu1231Gly
microtubule-associated protein 2 isoform 6 NP_001350839.1:p.Glu1227= NP_001350839.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 6 NP_001350840.1:p.Glu1227= NP_001350840.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 7 NP_001362433.1:p.Glu1231= NP_001362433.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 8 NP_001362430.1:p.Glu1313= NP_001362430.1:p.Glu1313Gly
microtubule-associated protein 2 isoform 11 NP_001362432.1:p.Glu1308= NP_001362432.1:p.Glu1308Gly
microtubule-associated protein 2 isoform 8 NP_001362466.1:p.Glu1313= NP_001362466.1:p.Glu1313Gly
microtubule-associated protein 2 isoform 9 NP_001362460.1:p.Glu1313= NP_001362460.1:p.Glu1313Gly
microtubule-associated protein 2 isoform 10 NP_001362468.1:p.Glu1309= NP_001362468.1:p.Glu1309Gly
microtubule-associated protein 2 isoform 1 NP_001362434.1:p.Glu1231= NP_001362434.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 12 NP_001362435.1:p.Glu1231= NP_001362435.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 14 NP_001362436.1:p.Glu1227= NP_001362436.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 13 NP_001362431.1:p.Glu1230= NP_001362431.1:p.Glu1230Gly
microtubule-associated protein 2 isoform 1 NP_001362463.1:p.Glu1231= NP_001362463.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 13 NP_001362473.1:p.Glu1230= NP_001362473.1:p.Glu1230Gly
microtubule-associated protein 2 isoform 31 NP_001362472.1:p.Glu1231= NP_001362472.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 33 NP_001362477.1:p.Glu1226= NP_001362477.1:p.Glu1226Gly
microtubule-associated protein 2 isoform 32 NP_001362475.1:p.Glu1227= NP_001362475.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 14 NP_001362474.1:p.Glu1227= NP_001362474.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 1 NP_001362455.1:p.Glu1231= NP_001362455.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 12 NP_001362456.1:p.Glu1231= NP_001362456.1:p.Glu1231Gly
microtubule-associated protein 2 isoform 6 NP_001362457.1:p.Glu1227= NP_001362457.1:p.Glu1227Gly
microtubule-associated protein 2 isoform 16 NP_001362481.1:p.Glu1073= NP_001362481.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 15 NP_001362484.1:p.Glu1073= NP_001362484.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 16 NP_001362485.1:p.Glu1073= NP_001362485.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 17 NP_001362487.1:p.Glu1073= NP_001362487.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 16 NP_001362480.1:p.Glu1073= NP_001362480.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 16 NP_001362486.1:p.Glu1073= NP_001362486.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 34 NP_001362488.1:p.Glu1073= NP_001362488.1:p.Glu1073Gly
microtubule-associated protein 2 isoform 18 NP_001362429.1:p.Glu1227= NP_001362429.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X3 XP_011509498.1:p.Glu1227= XP_011509498.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X4 XP_011509499.1:p.Glu1226= XP_011509499.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X2 XP_011509497.1:p.Glu1230= XP_011509497.1:p.Glu1230Gly
microtubule-associated protein 2 isoform X1 XP_016859601.1:p.Glu1231= XP_016859601.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X10 XP_016859605.1:p.Glu1227= XP_016859605.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X4 XP_016859602.1:p.Glu1226= XP_016859602.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X13 XP_016859617.1:p.Glu1226= XP_016859617.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X14 XP_016859618.1:p.Glu1226= XP_016859618.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X6 XP_016859603.1:p.Glu1231= XP_016859603.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X3 XP_024308662.1:p.Glu1227= XP_024308662.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X4 XP_024308663.1:p.Glu1226= XP_024308663.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X6 XP_024308664.1:p.Glu1231= XP_024308664.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X1 XP_024308661.1:p.Glu1231= XP_024308661.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X8 XP_024308665.1:p.Glu1227= XP_024308665.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X9 XP_024308667.1:p.Glu1226= XP_024308667.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X11 XP_024308670.1:p.Glu1230= XP_024308670.1:p.Glu1230Gly
microtubule-associated protein 2 isoform X12 XP_024308675.1:p.Glu1226= XP_024308675.1:p.Glu1226Gly
microtubule-associated protein 2 isoform X5 XP_047300343.1:p.Glu1231= XP_047300343.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X7 XP_047300344.1:p.Glu1231= XP_047300344.1:p.Glu1231Gly
microtubule-associated protein 2 isoform X3 XP_047300342.1:p.Glu1227= XP_047300342.1:p.Glu1227Gly
microtubule-associated protein 2 isoform X7 XP_047300345.1:p.Glu1231= XP_047300345.1:p.Glu1231Gly
MAP2 transcript variant 5 NM_001039538.1:c.455-4415= NM_001039538.1:c.455-4415A>G
MAP2 transcript variant 5 NM_001039538.2:c.455-4415= NM_001039538.2:c.455-4415A>G
MAP2 transcript variant 8 NM_001363913.2:c.455-4415= NM_001363913.2:c.455-4415A>G
MAP2 transcript variant 48 NM_001375474.1:c.455-4415= NM_001375474.1:c.455-4415A>G
MAP2 transcript variant 11 NM_001375493.1:c.455-4415= NM_001375493.1:c.455-4415A>G
MAP2 transcript variant 59 NM_001375494.1:c.455-4415= NM_001375494.1:c.455-4415A>G
MAP2 transcript variant 42 NM_001375495.1:c.455-680= NM_001375495.1:c.455-680A>G
MAP2 transcript variant 49 NM_001375496.1:c.455-4418= NM_001375496.1:c.455-4418A>G
MAP2 transcript variant 55 NM_001375497.1:c.452-4415= NM_001375497.1:c.452-4415A>G
MAP2 transcript variant 40 NM_001375498.1:c.452-680= NM_001375498.1:c.452-680A>G
MAP2 transcript variant 14 NM_001375499.1:c.455-4415= NM_001375499.1:c.455-4415A>G
MAP2 transcript variant 15 NM_001375508.1:c.455-4415= NM_001375508.1:c.455-4415A>G
MAP2 transcript variant 47 NM_001375509.1:c.545-1055= NM_001375509.1:c.545-1055A>G
MAP2 transcript variant 43 NM_001375510.1:c.455-680= NM_001375510.1:c.455-680A>G
MAP2 transcript variant 51 NM_001375529.1:c.452-4415= NM_001375529.1:c.452-4415A>G
MAP2 transcript variant 52 NM_001375530.1:c.455-4418= NM_001375530.1:c.455-4418A>G
MAP2 transcript variant 53 NM_001375532.1:c.455-4418= NM_001375532.1:c.455-4418A>G
MAP2 transcript variant 54 NM_001375533.1:c.452-4415= NM_001375533.1:c.452-4415A>G
MAP2 transcript variant 46 NM_001375535.1:c.698-4415= NM_001375535.1:c.698-4415A>G
MAP2 transcript variant 44 NM_001375536.1:c.455-680= NM_001375536.1:c.455-680A>G
MAP2 transcript variant 45 NM_001375538.1:c.455-680= NM_001375538.1:c.455-680A>G
MAP2 transcript variant 41 NM_001375540.1:c.452-680= NM_001375540.1:c.452-680A>G
MAP2 transcript variant 50 NM_001375541.1:c.455-1055= NM_001375541.1:c.455-1055A>G
MAP2 transcript variant 56 NM_001375542.1:c.452-4418= NM_001375542.1:c.452-4418A>G
MAP2 transcript variant 57 NM_001375553.1:c.-17-680= NM_001375553.1:c.-17-680A>G
MAP2 transcript variant 58 NM_001375554.1:c.-17-680= NM_001375554.1:c.-17-680A>G
MAP2 transcript variant 60 NM_001375583.1:c.455-4415= NM_001375583.1:c.455-4415A>G
MAP2 transcript variant 2 NM_031845.2:c.455-4415= NM_031845.2:c.455-4415A>G
MAP2 transcript variant 2 NM_031845.3:c.455-4415= NM_031845.3:c.455-4415A>G
MAP2 transcript variant 4 NM_031847.2:c.455-4415= NM_031847.2:c.455-4415A>G
MAP2 transcript variant 4 NM_031847.3:c.455-4415= NM_031847.3:c.455-4415A>G
MAP2 transcript variant X14 XM_005246567.1:c.455-4415= XM_005246567.1:c.455-4415A>G
MAP2 transcript variant X22 XM_047444390.1:c.455-4415= XM_047444390.1:c.455-4415A>G
MAP2 transcript variant X23 XM_047444391.1:c.455-4415= XM_047444391.1:c.455-4415A>G
MAP2 transcript variant X24 XM_047444392.1:c.455-4415= XM_047444392.1:c.455-4415A>G
MAP2 transcript variant X25 XM_047444393.1:c.455-4418= XM_047444393.1:c.455-4418A>G
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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 EVA_EXAC ss1686708163 Apr 01, 2015 (144)
2 GNOMAD ss2733289811 Nov 08, 2017 (151)
3 TOPMED ss4542915267 Apr 27, 2021 (155)
4 ExAC NC_000002.11 - 210560586 Oct 11, 2018 (152)
5 gnomAD - Exomes NC_000002.11 - 210560586 Jul 13, 2019 (153)
6 TopMed NC_000002.12 - 209695862 Apr 27, 2021 (155)
7 ALFA NC_000002.12 - 209695862 Apr 27, 2021 (155)
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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
6610851, 2354875, ss1686708163, ss2733289811 NC_000002.11:210560585:A:G NC_000002.12:209695861:A:G (self)
346738146, 6904624083, ss4542915267 NC_000002.12:209695861:A:G NC_000002.12:209695861:A:G (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 rs754195258

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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
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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.post761+d5e8e07